Canonical Allele Identifier: CA394884767

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263622A>G (hg19) ; chr16:g.16169765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169765A>G , CM000678.2:g.16169765A>G	GRCh38
NC_000016.9:g.16263622A>G , CM000678.1:g.16263622A>G	GRCh37
NC_000016.8:g.16171123A>G	NCBI36
NG_007558.2:g.58707T>C
NG_007558.3:g.58853T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2876T>C	ENSP00000483331.2:p.Val959Ala
ENST00000205557.12:c.2876T>C MANE Select	ENSP00000205557.7:p.Val959Ala
ENST00000205557.11:c.2876T>C	ENSP00000205557.7:p.Val959Ala
ENST00000456970.6:c.2701T>C	ENSP00000405002.2:n.2701T>C
ENST00000622290.4:c.*85T>C	ENSP00000483331.1:n.*85T>C
NM_001171.5:c.2876T>C	NP_001162.4:p.Val959Ala
XM_011522479.1:c.2843T>C	XP_011520781.1:p.Val948Ala
XM_011522480.1:c.2534T>C	XP_011520782.1:p.Val845Ala
XM_011522481.1:c.2534T>C	XP_011520783.1:p.Val845Ala
XR_932836.1:n.3111T>C
XR_932837.1:n.3112T>C
XR_932838.1:n.3112T>C
NM_001351800.1:c.2534T>C	NP_001338729.1:p.Val845Ala
NR_147784.1:n.2738T>C
XM_011522479.2:c.2843T>C	XP_011520781.1:p.Val948Ala
XM_011522481.3:c.2534T>C	XP_011520783.1:p.Val845Ala
XM_017023212.1:c.2708T>C	XP_016878701.1:p.Val903Ala
XM_017023214.1:c.2876T>C	XP_016878703.1:p.Val959Ala
XM_024450261.1:c.2912T>C	XP_024306029.1:p.Val971Ala
XR_932836.2:n.3057T>C
XR_932837.3:n.3057T>C
XR_932838.3:n.3057T>C
NM_001171.6:c.2876T>C MANE Select	NP_001162.5:p.Val959Ala