Canonical Allele Identifier: CA394878662

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253340T>G (hg19) ; chr16:g.16159483T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159483T>G , CM000678.2:g.16159483T>G	GRCh38
NC_000016.9:g.16253340T>G , CM000678.1:g.16253340T>G	GRCh37
NC_000016.8:g.16160841T>G	NCBI36
NG_007558.2:g.68989A>C
NG_007558.3:g.69135A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3734A>C	ENSP00000483331.2:p.Glu1245Ala
ENST00000205557.12:c.3734A>C MANE Select	ENSP00000205557.7:p.Glu1245Ala
ENST00000640696.1:c.548A>C	ENSP00000492197.1:p.Glu183Ala
ENST00000205557.11:c.3734A>C	ENSP00000205557.7:p.Glu1245Ala
ENST00000456970.6:c.3359A>C	ENSP00000405002.2:n.3359A>C
ENST00000622290.4:c.*943A>C	ENSP00000483331.1:n.*943A>C
NM_001171.5:c.3734A>C	NP_001162.4:p.Glu1245Ala
XM_011522479.1:c.3701A>C	XP_011520781.1:p.Glu1234Ala
XM_011522480.1:c.3392A>C	XP_011520782.1:p.Glu1131Ala
XM_011522481.1:c.3392A>C	XP_011520783.1:p.Glu1131Ala
XR_932836.1:n.3969A>C
XR_932837.1:n.3770A>C
XR_932838.1:n.3770A>C
XR_933134.1:n.539-298T>G
NM_001351800.1:c.3392A>C	NP_001338729.1:p.Glu1131Ala
NR_147784.1:n.3396A>C
XM_011522479.2:c.3701A>C	XP_011520781.1:p.Glu1234Ala
XM_011522481.3:c.3392A>C	XP_011520783.1:p.Glu1131Ala
XM_017023212.1:c.3566A>C	XP_016878701.1:p.Glu1189Ala
XM_024450261.1:c.3770A>C	XP_024306029.1:p.Glu1257Ala
XR_932836.2:n.3915A>C
XR_932837.3:n.3715A>C
XR_932838.3:n.3715A>C
NM_001171.6:c.3734A>C MANE Select	NP_001162.5:p.Glu1245Ala