Canonical Allele Identifier: CA394876243

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248878A>G (hg19) ; chr16:g.16155021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155021A>G , CM000678.2:g.16155021A>G	GRCh38
NC_000016.9:g.16248878A>G , CM000678.1:g.16248878A>G	GRCh37
NC_000016.8:g.16156379A>G	NCBI36
NG_007558.2:g.73451T>C
NG_007558.3:g.73597T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.756T>C
ENST00000622290.5:c.*65T>C	ENSP00000483331.2:n.*65T>C
ENST00000205557.12:c.3893T>C MANE Select	ENSP00000205557.7:p.Val1298Ala
ENST00000640696.1:c.707T>C	ENSP00000492197.1:p.Val236Ala
ENST00000205557.11:c.3893T>C	ENSP00000205557.7:p.Val1298Ala
ENST00000456970.6:c.3518T>C	ENSP00000405002.2:n.3518T>C
ENST00000576204.5:n.756T>C
ENST00000622290.4:c.*1102T>C	ENSP00000483331.1:n.*1102T>C
NM_001171.5:c.3893T>C	NP_001162.4:p.Val1298Ala
XM_011522479.1:c.3860T>C	XP_011520781.1:p.Val1287Ala
XM_011522480.1:c.3551T>C	XP_011520782.1:p.Val1184Ala
XM_011522481.1:c.3551T>C	XP_011520783.1:p.Val1184Ala
XR_932836.1:n.4191T>C
XR_932837.1:n.3929T>C
XR_932838.1:n.3992T>C
XR_933134.1:n.539-4760A>G
NM_001351800.1:c.3551T>C	NP_001338729.1:p.Val1184Ala
NR_147784.1:n.3555T>C
XM_011522479.2:c.3860T>C	XP_011520781.1:p.Val1287Ala
XM_011522481.3:c.3551T>C	XP_011520783.1:p.Val1184Ala
XM_017023212.1:c.3725T>C	XP_016878701.1:p.Val1242Ala
XM_024450261.1:c.3929T>C	XP_024306029.1:p.Val1310Ala
XR_932836.2:n.4137T>C
XR_932837.3:n.3874T>C
XR_932838.3:n.3937T>C
NM_001171.6:c.3893T>C MANE Select	NP_001162.5:p.Val1298Ala