Canonical Allele Identifier: CA384126493

Gene: ABCC9

Linked Data

• MyVariant Identifiers: chr12:g.21954096A>C (hg19) ; chr12:g.21801162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21801162A>C , CM000674.2:g.21801162A>C	GRCh38
NC_000012.11:g.21954096A>C , CM000674.1:g.21954096A>C	GRCh37
NC_000012.10:g.21845363A>C	NCBI36
NG_012819.1:g.140533T>G , LRG_377:g.140533T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.*58T>G	ENSP00000261201.4:n.*58T>G
ENST00000682426.1:n.2109T>G
ENST00000682879.1:c.*3630T>G	ENSP00000508210.1:n.*3630T>G
ENST00000683105.1:c.*556T>G	ENSP00000506801.1:n.*556T>G
ENST00000683676.1:c.4212-2024T>G	ENSP00000508167.1:n.4212-2024T>G
ENST00000683695.1:n.997T>G
ENST00000684084.1:c.4481T>G	ENSP00000507859.1:p.Leu1494Arg
ENST00000261200.9:c.4532T>G MANE Select	ENSP00000261200.4:p.Leu1511Arg
ENST00000261201.9:c.4708T>G	ENSP00000261201.4:n.4708T>G
ENST00000261200.8:c.4532T>G	ENSP00000261200.4:p.Leu1511Arg
NM_020297.3:c.4532T>G	NP_064693.2:p.Leu1511Arg
XM_005253284.2:c.4532T>G	XP_005253341.1:p.Leu1511Arg
XM_005253286.2:c.4532T>G	XP_005253343.1:p.Leu1511Arg
XM_005253287.3:c.*58T>G	XP_005253344.1:n.*58T>G
XM_005253288.2:c.4532T>G	XP_005253345.1:p.Leu1511Arg
XM_005253289.2:c.4493T>G	XP_005253346.1:p.Leu1498Arg
XM_005253290.2:c.4391T>G	XP_005253347.1:p.Leu1464Arg
XM_006719025.2:c.*58T>G	XP_006719088.1:n.*58T>G
XM_011520545.1:c.4532T>G	XP_011518847.1:p.Leu1511Arg
XR_931420.1:n.632-26048A>C
XR_931421.1:n.632-26048A>C
XR_931422.1:n.306-26048A>C
XM_005253284.4:c.4532T>G	XP_005253341.1:p.Leu1511Arg
XM_005253286.4:c.4532T>G	XP_005253343.1:p.Leu1511Arg
XM_005253287.5:c.*58T>G	XP_005253344.1:n.*58T>G
XM_005253288.4:c.4532T>G	XP_005253345.1:p.Leu1511Arg
XM_005253289.4:c.4493T>G	XP_005253346.1:p.Leu1498Arg
XM_005253290.4:c.4391T>G	XP_005253347.1:p.Leu1464Arg
XM_006719025.4:c.*58T>G	XP_006719088.1:n.*58T>G
XM_011520545.3:c.4532T>G	XP_011518847.1:p.Leu1511Arg
XR_931420.3:n.632-26048A>C
XR_931422.2:n.318-26048A>C
NM_001377273.1:c.4532T>G	NP_001364202.1:p.Leu1511Arg
NM_001377274.1:c.3665T>G	NP_001364203.1:p.Leu1222Arg
NM_005691.4:c.*58T>G	NP_005682.2:n.*58T>G
NM_020297.4:c.4532T>G MANE Select	NP_064693.2:p.Leu1511Arg