Canonical Allele Identifier: CA394884019

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244601C>G (hg19) ; chr16:g.16150744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150744C>G , CM000678.2:g.16150744C>G	GRCh38
NC_000016.9:g.16244601C>G , CM000678.1:g.16244601C>G	GRCh37
NC_000016.8:g.16152102C>G	NCBI36
NG_007558.2:g.77728G>C
NG_007558.3:g.77874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*409G>C	ENSP00000483331.2:n.*409G>C
ENST00000205557.12:c.4237G>C MANE Select	ENSP00000205557.7:p.Ala1413Pro
ENST00000640696.1:c.1051G>C	ENSP00000492197.1:p.Ala351Pro
ENST00000205557.11:c.4237G>C	ENSP00000205557.7:p.Ala1413Pro
ENST00000456970.6:c.3862G>C	ENSP00000405002.2:n.3862G>C
ENST00000576204.5:n.1100G>C
ENST00000622290.4:c.*1446G>C	ENSP00000483331.1:n.*1446G>C
NM_001171.5:c.4237G>C	NP_001162.4:p.Ala1413Pro
XM_011522479.1:c.4204G>C	XP_011520781.1:p.Ala1402Pro
XM_011522480.1:c.3895G>C	XP_011520782.1:p.Ala1299Pro
XM_011522481.1:c.3895G>C	XP_011520783.1:p.Ala1299Pro
XR_933134.1:n.538+6454C>G
NM_001351800.1:c.3895G>C	NP_001338729.1:p.Ala1299Pro
NR_147784.1:n.3899G>C
XM_011522479.2:c.4204G>C	XP_011520781.1:p.Ala1402Pro
XM_011522481.3:c.3895G>C	XP_011520783.1:p.Ala1299Pro
XM_017023212.1:c.4069G>C	XP_016878701.1:p.Ala1357Pro
XM_024450261.1:c.4273G>C	XP_024306029.1:p.Ala1425Pro
NM_001171.6:c.4237G>C MANE Select	NP_001162.5:p.Ala1413Pro