Canonical Allele Identifier: CA394884503

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248543C>G (hg19) ; chr16:g.16154686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154686C>G , CM000678.2:g.16154686C>G	GRCh38
NC_000016.9:g.16248543C>G , CM000678.1:g.16248543C>G	GRCh37
NC_000016.8:g.16156044C>G	NCBI36
NG_007558.2:g.73786G>C
NG_007558.3:g.73932G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*322G>C	ENSP00000483331.2:n.*322G>C
ENST00000205557.12:c.4150G>C MANE Select	ENSP00000205557.7:p.Val1384Leu
ENST00000640696.1:c.964G>C	ENSP00000492197.1:p.Val322Leu
ENST00000205557.11:c.4150G>C	ENSP00000205557.7:p.Val1384Leu
ENST00000456970.6:c.3775G>C	ENSP00000405002.2:n.3775G>C
ENST00000576204.5:n.1013G>C
ENST00000622290.4:c.*1359G>C	ENSP00000483331.1:n.*1359G>C
NM_001171.5:c.4150G>C	NP_001162.4:p.Val1384Leu
XM_011522479.1:c.4117G>C	XP_011520781.1:p.Val1373Leu
XM_011522480.1:c.3808G>C	XP_011520782.1:p.Val1270Leu
XM_011522481.1:c.3808G>C	XP_011520783.1:p.Val1270Leu
XR_933134.1:n.539-5095C>G
NM_001351800.1:c.3808G>C	NP_001338729.1:p.Val1270Leu
NR_147784.1:n.3812G>C
XM_011522479.2:c.4117G>C	XP_011520781.1:p.Val1373Leu
XM_011522481.3:c.3808G>C	XP_011520783.1:p.Val1270Leu
XM_017023212.1:c.3982G>C	XP_016878701.1:p.Val1328Leu
XM_024450261.1:c.4186G>C	XP_024306029.1:p.Val1396Leu
NM_001171.6:c.4150G>C MANE Select	NP_001162.5:p.Val1384Leu