Canonical Allele Identifier: CA368814952

Gene: RINT1 EFCAB10

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105565426T>C , CM000669.2:g.105565426T>C	GRCh38
NC_000007.13:g.105205873T>C , CM000669.1:g.105205873T>C	GRCh37
NC_000007.12:g.104993109T>C	NCBI36
NG_051951.1:g.38346T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001355526.2:c.*21A>G (EFCAB10) MANE Select	NP_001342455.1:n.*21A>G
NM_021930.6:c.2036T>C (RINT1) MANE Select	NP_068749.3:p.Val679Ala
ENST00000257700.7:c.2036T>C (RINT1) MANE Select	ENSP00000257700.2:p.Val679Ala
ENST00000480514.6:c.*21A>G (EFCAB10) MANE Select	ENSP00000418678.1:n.*21A>G
NM_001346599.1:c.1802T>C (RINT1)	NP_001333528.1:p.Val601Ala
NM_001346599.2:c.1802T>C (RINT1)	NP_001333528.1:p.Val601Ala
NM_001346600.1:c.1013T>C (RINT1)	NP_001333529.1:p.Val338Ala
NM_001346600.2:c.1013T>C (RINT1)	NP_001333529.1:p.Val338Ala
NM_001346601.1:c.1112T>C (RINT1)	NP_001333530.1:p.Val371Ala
NM_001346601.2:c.1112T>C (RINT1)	NP_001333530.1:p.Val371Ala
NM_001346603.1:c.1013T>C (RINT1)	NP_001333532.1:p.Val338Ala
NM_001346603.2:c.1013T>C (RINT1)	NP_001333532.1:p.Val338Ala
NM_001355526.1:c.*21A>G (EFCAB10)	NP_001342455.1:n.*21A>G
NM_001355530.1:c.*123A>G (EFCAB10)	NP_001342459.1:n.*123A>G
NM_001355530.2:c.*123A>G (EFCAB10)	NP_001342459.1:n.*123A>G
NM_001355531.1:c.381A>G (EFCAB10)	NP_001342460.1:p.Leu127=
NM_001355531.2:c.381A>G (EFCAB10)	NP_001342460.1:p.Leu127=
NM_021930.4:c.2036T>C (RINT1)	NP_068749.3:p.Val679Ala
NM_021930.5:c.2036T>C (RINT1)	NP_068749.3:p.Val679Ala
NR_027068.1:n.471A>G (EFCAB10)
NR_144478.1:n.2071T>C (RINT1)
NR_144478.2:n.1951T>C (RINT1)
ENST00000257700.6:c.2036T>C (RINT1)	ENSP00000257700.2:p.Val679Ala
ENST00000469099.5:n.491A>G (EFCAB10)
ENST00000480514.5:c.*21A>G (EFCAB10)	ENSP00000418678.1:n.*21A>G
ENST00000485614.5:c.*123A>G (EFCAB10)	ENSP00000417841.1:n.*123A>G
ENST00000497979.5:c.*1641T>C (RINT1)	ENSP00000420582.1:n.*1641T>C
XM_005250524.2:c.1013T>C (RINT1)	XP_005250581.1:p.Val338Ala
XM_005250524.4:c.1013T>C (RINT1)	XP_005250581.1:p.Val338Ala
XM_011516458.1:c.1013T>C (RINT1)	XP_011514760.1:p.Val338Ala
XM_011516458.3:c.1013T>C (RINT1)	XP_011514760.1:p.Val338Ala
XM_024446617.1:c.*47A>G (EFCAB10)	XP_024302385.1:n.*47A>G
XM_024446855.1:c.2036T>C (RINT1)	XP_024302623.1:p.Val679Ala
XM_024446856.1:c.1013T>C (RINT1)	XP_024302624.1:p.Val338Ala
XR_927507.1:n.1983T>C (RINT1)