Canonical Allele Identifier: CA394884546

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248557T>A (hg19) ; chr16:g.16154700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154700T>A , CM000678.2:g.16154700T>A	GRCh38
NC_000016.9:g.16248557T>A , CM000678.1:g.16248557T>A	GRCh37
NC_000016.8:g.16156058T>A	NCBI36
NG_007558.2:g.73772A>T
NG_007558.3:g.73918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*308A>T	ENSP00000483331.2:n.*308A>T
ENST00000205557.12:c.4136A>T MANE Select	ENSP00000205557.7:p.Gln1379Leu
ENST00000640696.1:c.950A>T	ENSP00000492197.1:p.Gln317Leu
ENST00000205557.11:c.4136A>T	ENSP00000205557.7:p.Gln1379Leu
ENST00000456970.6:c.3761A>T	ENSP00000405002.2:n.3761A>T
ENST00000576204.5:n.999A>T
ENST00000622290.4:c.*1345A>T	ENSP00000483331.1:n.*1345A>T
NM_001171.5:c.4136A>T	NP_001162.4:p.Gln1379Leu
XM_011522479.1:c.4103A>T	XP_011520781.1:p.Gln1368Leu
XM_011522480.1:c.3794A>T	XP_011520782.1:p.Gln1265Leu
XM_011522481.1:c.3794A>T	XP_011520783.1:p.Gln1265Leu
XR_933134.1:n.539-5081T>A
NM_001351800.1:c.3794A>T	NP_001338729.1:p.Gln1265Leu
NR_147784.1:n.3798A>T
XM_011522479.2:c.4103A>T	XP_011520781.1:p.Gln1368Leu
XM_011522481.3:c.3794A>T	XP_011520783.1:p.Gln1265Leu
XM_017023212.1:c.3968A>T	XP_016878701.1:p.Gln1323Leu
XM_024450261.1:c.4172A>T	XP_024306029.1:p.Gln1391Leu
NM_001171.6:c.4136A>T MANE Select	NP_001162.5:p.Gln1379Leu