Canonical Allele Identifier: CA350892055

Gene: TRIP12

Linked Data

• dbSNP Id: rs1207590555
• gnomAD v2: 2-230652222-T-G
• gnomAD v3: 2-229787506-T-G
• gnomAD v4: 2-229787506-T-G
• MyVariant Identifiers: chr2:g.230652222T>G (hg19) ; chr2:g.229787506T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.229787506T>G , CM000664.2:g.229787506T>G	GRCh38
NC_000002.11:g.230652222T>G , CM000664.1:g.230652222T>G	GRCh37
NC_000002.10:g.230360466T>G	NCBI36
NG_053017.1:g.140729A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430954.6:c.4817A>C	ENSP00000389827.2:p.Lys1606Thr
ENST00000453485.2:c.4826A>C	ENSP00000400967.2:p.Lys1609Thr
ENST00000704577.1:c.4994A>C	ENSP00000515952.1:p.Lys1665Thr
ENST00000704578.1:c.4853A>C	ENSP00000515953.1:p.Lys1618Thr
ENST00000704579.1:c.*3158A>C	ENSP00000515954.1:n.*3158A>C
ENST00000704580.1:c.4868A>C	ENSP00000515955.1:p.Lys1623Thr
ENST00000704581.1:c.4982A>C	ENSP00000515956.1:p.Lys1661Thr
ENST00000704582.1:c.648A>C
ENST00000704583.1:c.*2478A>C	ENSP00000515958.1:n.*2478A>C
ENST00000704584.1:c.4717A>C
ENST00000704585.1:c.4772A>C	ENSP00000515960.1:p.Lys1591Thr
ENST00000675423.1:c.4994A>C	ENSP00000502768.1:p.Lys1665Thr
ENST00000675453.1:c.4997A>C	ENSP00000502271.1:p.Lys1666Thr
ENST00000675903.1:c.4994A>C MANE Select	ENSP00000502713.1:p.Lys1665Thr
ENST00000283943.9:c.4769A>C	ENSP00000283943.4:p.Lys1590Thr
ENST00000389044.8:c.4913A>C	ENSP00000373696.4:p.Lys1638Thr
ENST00000389045.7:c.3959A>C	ENSP00000373697.3:p.Lys1320Thr
NM_001284214.1:c.4913A>C	NP_001271143.1:p.Lys1638Thr
NM_001284215.1:c.4868A>C	NP_001271144.1:p.Lys1623Thr
NM_001284216.1:c.3959A>C	NP_001271145.1:p.Lys1320Thr
NM_004238.2:c.4769A>C	NP_004229.1:p.Lys1590Thr
XM_005246954.3:c.4997A>C	XP_005247011.1:p.Lys1666Thr
XM_005246955.3:c.4997A>C	XP_005247012.1:p.Lys1666Thr
XM_005246956.3:c.4994A>C	XP_005247013.1:p.Lys1665Thr
XM_005246957.3:c.4982A>C	XP_005247014.1:p.Lys1661Thr
XM_005246958.3:c.4916A>C	XP_005247015.1:p.Lys1639Thr
XM_005246960.3:c.4910A>C	XP_005247017.1:p.Lys1637Thr
XM_005246961.2:c.4871A>C	XP_005247018.1:p.Lys1624Thr
XM_005246962.3:c.4868A>C	XP_005247019.1:p.Lys1623Thr
XM_005246963.3:c.4997A>C	XP_005247020.1:p.Lys1666Thr
XM_006712852.2:c.4871A>C	XP_006712915.1:p.Lys1624Thr
XM_006712853.2:c.4787A>C	XP_006712916.1:p.Lys1596Thr
XM_011512180.1:c.4997A>C	XP_011510482.1:p.Lys1666Thr
XM_011512181.1:c.4997A>C	XP_011510483.1:p.Lys1666Thr
XM_011512182.1:c.4997A>C	XP_011510484.1:p.Lys1666Thr
XM_011512183.1:c.4871A>C	XP_011510485.1:p.Lys1624Thr
XM_011512184.1:c.4997A>C	XP_011510486.1:p.Lys1666Thr
NM_001284215.2:c.4868A>C	NP_001271144.1:p.Lys1623Thr
NM_001348315.1:c.4913A>C	NP_001335244.1:p.Lys1638Thr
NM_001348316.1:c.4868A>C	NP_001335245.1:p.Lys1623Thr
NM_001348317.1:c.4853A>C	NP_001335246.1:p.Lys1618Thr
NM_001348318.1:c.4853A>C	NP_001335247.1:p.Lys1618Thr
NM_001348319.1:c.4979A>C	NP_001335248.1:p.Lys1660Thr
NM_001348320.1:c.4979A>C	NP_001335249.1:p.Lys1660Thr
NM_001348321.1:c.4982A>C	NP_001335250.1:p.Lys1661Thr
NM_001348322.1:c.4994A>C	NP_001335251.1:p.Lys1665Thr
NM_001348323.1:c.4994A>C	NP_001335252.1:p.Lys1665Thr
NM_001348324.1:c.4994A>C	NP_001335253.1:p.Lys1665Thr
NM_001348325.1:c.4994A>C	NP_001335254.1:p.Lys1665Thr
NM_001348326.1:c.4994A>C	NP_001335255.1:p.Lys1665Thr
NM_001348327.1:c.4994A>C	NP_001335256.1:p.Lys1665Thr
NM_001348328.1:c.4997A>C	NP_001335257.1:p.Lys1666Thr
NM_001348329.1:c.4997A>C	NP_001335258.1:p.Lys1666Thr
NM_001348330.1:c.4997A>C	NP_001335259.1:p.Lys1666Thr
NM_001348331.1:c.4772A>C	NP_001335260.1:p.Lys1591Thr
NM_001348332.1:c.4892A>C	NP_001335261.1:p.Lys1631Thr
NM_001348333.1:c.4916A>C	NP_001335262.1:p.Lys1639Thr
XM_005246961.4:c.4871A>C	XP_005247018.1:p.Lys1624Thr
XM_017005283.2:c.4898A>C	XP_016860772.1:p.Lys1633Thr
XM_017005289.2:c.4829A>C	XP_016860778.1:p.Lys1610Thr
XM_017005290.2:c.4826A>C	XP_016860779.1:p.Lys1609Thr
XM_024453223.1:c.5069A>C	XP_024308991.1:p.Lys1690Thr
XM_024453224.1:c.5069A>C	XP_024308992.1:p.Lys1690Thr
XM_024453225.1:c.5069A>C	XP_024308993.1:p.Lys1690Thr
XM_024453226.1:c.5069A>C	XP_024308994.1:p.Lys1690Thr
XM_024453227.1:c.5069A>C	XP_024308995.1:p.Lys1690Thr
XM_024453228.1:c.5069A>C	XP_024308996.1:p.Lys1690Thr
XM_024453229.1:c.5066A>C	XP_024308997.1:p.Lys1689Thr
XM_024453230.1:c.5066A>C	XP_024308998.1:p.Lys1689Thr
XM_024453231.1:c.4988A>C	XP_024308999.1:p.Lys1663Thr
XM_024453232.1:c.4985A>C	XP_024309000.1:p.Lys1662Thr
XM_024453233.1:c.4982A>C	XP_024309001.1:p.Lys1661Thr
XM_024453234.1:c.4982A>C	XP_024309002.1:p.Lys1661Thr
XM_024453235.1:c.4982A>C	XP_024309003.1:p.Lys1661Thr
XM_024453236.1:c.4943A>C	XP_024309004.1:p.Lys1648Thr
XM_024453237.1:c.4943A>C	XP_024309005.1:p.Lys1648Thr
XM_024453238.1:c.4943A>C	XP_024309006.1:p.Lys1648Thr
XM_024453239.1:c.4943A>C	XP_024309007.1:p.Lys1648Thr
XM_024453240.1:c.4943A>C	XP_024309008.1:p.Lys1648Thr
XM_024453241.1:c.4940A>C	XP_024309009.1:p.Lys1647Thr
XM_024453242.1:c.4856A>C	XP_024309010.1:p.Lys1619Thr
XM_024453243.1:c.4787A>C	XP_024309011.1:p.Lys1596Thr
NM_001284214.2:c.4913A>C	NP_001271143.1:p.Lys1638Thr
NM_001284216.2:c.3959A>C	NP_001271145.1:p.Lys1320Thr
NM_001348315.2:c.4913A>C	NP_001335244.1:p.Lys1638Thr
NM_001348316.2:c.4868A>C	NP_001335245.1:p.Lys1623Thr
NM_001348318.2:c.4853A>C	NP_001335247.1:p.Lys1618Thr
NM_001348320.2:c.4979A>C	NP_001335249.1:p.Lys1660Thr
NM_001348323.2:c.4994A>C	NP_001335252.1:p.Lys1665Thr
NM_001348324.2:c.4994A>C	NP_001335253.1:p.Lys1665Thr
NM_001348325.2:c.4994A>C	NP_001335254.1:p.Lys1665Thr
NM_001348326.2:c.4994A>C	NP_001335255.1:p.Lys1665Thr
NM_001348327.2:c.4994A>C	NP_001335256.1:p.Lys1665Thr
NM_001348329.2:c.4997A>C	NP_001335258.1:p.Lys1666Thr
NM_001348330.2:c.4997A>C	NP_001335259.1:p.Lys1666Thr
NM_004238.3:c.4769A>C	NP_004229.1:p.Lys1590Thr
NM_001348323.3:c.4994A>C MANE Select	NP_001335252.1:p.Lys1665Thr