Canonical Allele Identifier: CA394883983

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244588A>G (hg19) ; chr16:g.16150731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150731A>G , CM000678.2:g.16150731A>G	GRCh38
NC_000016.9:g.16244588A>G , CM000678.1:g.16244588A>G	GRCh37
NC_000016.8:g.16152089A>G	NCBI36
NG_007558.2:g.77741T>C
NG_007558.3:g.77887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*422T>C	ENSP00000483331.2:n.*422T>C
ENST00000205557.12:c.4250T>C MANE Select	ENSP00000205557.7:p.Leu1417Pro
ENST00000640696.1:c.1064T>C	ENSP00000492197.1:p.Leu355Pro
ENST00000205557.11:c.4250T>C	ENSP00000205557.7:p.Leu1417Pro
ENST00000456970.6:c.3875T>C	ENSP00000405002.2:n.3875T>C
ENST00000576204.5:n.1113T>C
ENST00000622290.4:c.*1459T>C	ENSP00000483331.1:n.*1459T>C
NM_001171.5:c.4250T>C	NP_001162.4:p.Leu1417Pro
XM_011522479.1:c.4217T>C	XP_011520781.1:p.Leu1406Pro
XM_011522480.1:c.3908T>C	XP_011520782.1:p.Leu1303Pro
XM_011522481.1:c.3908T>C	XP_011520783.1:p.Leu1303Pro
XR_933134.1:n.538+6441A>G
NM_001351800.1:c.3908T>C	NP_001338729.1:p.Leu1303Pro
NR_147784.1:n.3912T>C
XM_011522479.2:c.4217T>C	XP_011520781.1:p.Leu1406Pro
XM_011522481.3:c.3908T>C	XP_011520783.1:p.Leu1303Pro
XM_017023212.1:c.4082T>C	XP_016878701.1:p.Leu1361Pro
XM_024450261.1:c.4286T>C	XP_024306029.1:p.Leu1429Pro
NM_001171.6:c.4250T>C MANE Select	NP_001162.5:p.Leu1417Pro