Canonical Allele Identifier: CA394883273

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165855A>G , CM000678.2:g.16165855A>G	GRCh38
NC_000016.9:g.16259712A>G , CM000678.1:g.16259712A>G	GRCh37
NC_000016.8:g.16167213A>G	NCBI36
NG_007558.2:g.62617T>C
NG_007558.3:g.62763T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3074T>C MANE Select	NP_001162.5:p.Leu1025Pro
ENST00000205557.12:c.3074T>C MANE Select	ENSP00000205557.7:p.Leu1025Pro
NM_001171.5:c.3074T>C	NP_001162.4:p.Leu1025Pro
NM_001351800.1:c.2732T>C	NP_001338729.1:p.Leu911Pro
NR_147784.1:n.2936T>C
ENST00000205557.11:c.3074T>C	ENSP00000205557.7:p.Leu1025Pro
ENST00000456970.6:c.2899T>C	ENSP00000405002.2:n.2899T>C
ENST00000622290.4:c.*283T>C	ENSP00000483331.1:n.*283T>C
ENST00000622290.5:c.3074T>C	ENSP00000483331.2:p.Leu1025Pro
ENST00000640696.1:c.89T>C	ENSP00000492197.1:p.Leu30Pro
XM_011522479.1:c.3041T>C	XP_011520781.1:p.Leu1014Pro
XM_011522479.2:c.3041T>C	XP_011520781.1:p.Leu1014Pro
XM_011522480.1:c.2732T>C	XP_011520782.1:p.Leu911Pro
XM_011522481.1:c.2732T>C	XP_011520783.1:p.Leu911Pro
XM_011522481.3:c.2732T>C	XP_011520783.1:p.Leu911Pro
XM_017023212.1:c.2906T>C	XP_016878701.1:p.Leu969Pro
XM_017023214.1:c.3074T>C	XP_016878703.1:p.Leu1025Pro
XM_024450261.1:c.3110T>C	XP_024306029.1:p.Leu1037Pro
XR_932836.1:n.3309T>C
XR_932836.2:n.3255T>C
XR_932837.1:n.3310T>C
XR_932837.3:n.3255T>C
XR_932838.1:n.3310T>C
XR_932838.3:n.3255T>C