Canonical Allele Identifier: CA394884335

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248491T>G (hg19) ; chr16:g.16154634T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154634T>G , CM000678.2:g.16154634T>G	GRCh38
NC_000016.9:g.16248491T>G , CM000678.1:g.16248491T>G	GRCh37
NC_000016.8:g.16155992T>G	NCBI36
NG_007558.2:g.73838A>C
NG_007558.3:g.73984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*374A>C	ENSP00000483331.2:n.*374A>C
ENST00000205557.12:c.4202A>C MANE Select	ENSP00000205557.7:p.Asp1401Ala
ENST00000640696.1:c.1016A>C	ENSP00000492197.1:p.Asp339Ala
ENST00000205557.11:c.4202A>C	ENSP00000205557.7:p.Asp1401Ala
ENST00000456970.6:c.3827A>C	ENSP00000405002.2:n.3827A>C
ENST00000576204.5:n.1065A>C
ENST00000622290.4:c.*1411A>C	ENSP00000483331.1:n.*1411A>C
NM_001171.5:c.4202A>C	NP_001162.4:p.Asp1401Ala
XM_011522479.1:c.4169A>C	XP_011520781.1:p.Asp1390Ala
XM_011522480.1:c.3860A>C	XP_011520782.1:p.Asp1287Ala
XM_011522481.1:c.3860A>C	XP_011520783.1:p.Asp1287Ala
XR_933134.1:n.539-5147T>G
NM_001351800.1:c.3860A>C	NP_001338729.1:p.Asp1287Ala
NR_147784.1:n.3864A>C
XM_011522479.2:c.4169A>C	XP_011520781.1:p.Asp1390Ala
XM_011522481.3:c.3860A>C	XP_011520783.1:p.Asp1287Ala
XM_017023212.1:c.4034A>C	XP_016878701.1:p.Asp1345Ala
XM_024450261.1:c.4238A>C	XP_024306029.1:p.Asp1413Ala
NM_001171.6:c.4202A>C MANE Select	NP_001162.5:p.Asp1401Ala