Canonical Allele Identifier: CA394875550

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248767A>C (hg19) ; chr16:g.16154910A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154910A>C , CM000678.2:g.16154910A>C	GRCh38
NC_000016.9:g.16248767A>C , CM000678.1:g.16248767A>C	GRCh37
NC_000016.8:g.16156268A>C	NCBI36
NG_007558.2:g.73562T>G
NG_007558.3:g.73708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.867T>G
ENST00000622290.5:c.*176T>G	ENSP00000483331.2:n.*176T>G
ENST00000205557.12:c.4004T>G MANE Select	ENSP00000205557.7:p.Leu1335Arg
ENST00000640696.1:c.818T>G	ENSP00000492197.1:p.Leu273Arg
ENST00000205557.11:c.4004T>G	ENSP00000205557.7:p.Leu1335Arg
ENST00000456970.6:c.3629T>G	ENSP00000405002.2:n.3629T>G
ENST00000576204.5:n.867T>G
ENST00000622290.4:c.*1213T>G	ENSP00000483331.1:n.*1213T>G
NM_001171.5:c.4004T>G	NP_001162.4:p.Leu1335Arg
XM_011522479.1:c.3971T>G	XP_011520781.1:p.Leu1324Arg
XM_011522480.1:c.3662T>G	XP_011520782.1:p.Leu1221Arg
XM_011522481.1:c.3662T>G	XP_011520783.1:p.Leu1221Arg
XR_933134.1:n.539-4871A>C
NM_001351800.1:c.3662T>G	NP_001338729.1:p.Leu1221Arg
NR_147784.1:n.3666T>G
XM_011522479.2:c.3971T>G	XP_011520781.1:p.Leu1324Arg
XM_011522481.3:c.3662T>G	XP_011520783.1:p.Leu1221Arg
XM_017023212.1:c.3836T>G	XP_016878701.1:p.Leu1279Arg
XM_024450261.1:c.4040T>G	XP_024306029.1:p.Leu1347Arg
NM_001171.6:c.4004T>G MANE Select	NP_001162.5:p.Leu1335Arg