Canonical Allele Identifier: CA394884036

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244607A>C (hg19) ; chr16:g.16150750A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150750A>C , CM000678.2:g.16150750A>C	GRCh38
NC_000016.9:g.16244607A>C , CM000678.1:g.16244607A>C	GRCh37
NC_000016.8:g.16152108A>C	NCBI36
NG_007558.2:g.77722T>G
NG_007558.3:g.77868T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*403T>G	ENSP00000483331.2:n.*403T>G
ENST00000205557.12:c.4231T>G MANE Select	ENSP00000205557.7:p.Cys1411Gly
ENST00000640696.1:c.1045T>G	ENSP00000492197.1:p.Cys349Gly
ENST00000205557.11:c.4231T>G	ENSP00000205557.7:p.Cys1411Gly
ENST00000456970.6:c.3856T>G	ENSP00000405002.2:n.3856T>G
ENST00000576204.5:n.1094T>G
ENST00000622290.4:c.*1440T>G	ENSP00000483331.1:n.*1440T>G
NM_001171.5:c.4231T>G	NP_001162.4:p.Cys1411Gly
XM_011522479.1:c.4198T>G	XP_011520781.1:p.Cys1400Gly
XM_011522480.1:c.3889T>G	XP_011520782.1:p.Cys1297Gly
XM_011522481.1:c.3889T>G	XP_011520783.1:p.Cys1297Gly
XR_933134.1:n.538+6460A>C
NM_001351800.1:c.3889T>G	NP_001338729.1:p.Cys1297Gly
NR_147784.1:n.3893T>G
XM_011522479.2:c.4198T>G	XP_011520781.1:p.Cys1400Gly
XM_011522481.3:c.3889T>G	XP_011520783.1:p.Cys1297Gly
XM_017023212.1:c.4063T>G	XP_016878701.1:p.Cys1355Gly
XM_024450261.1:c.4267T>G	XP_024306029.1:p.Cys1423Gly
NM_001171.6:c.4231T>G MANE Select	NP_001162.5:p.Cys1411Gly