Canonical Allele Identifier: CA494088342

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259573A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165716A>G , CM000678.2:g.16165716A>G	GRCh38
NC_000016.9:g.16259573A>G , CM000678.1:g.16259573A>G	GRCh37
NC_000016.8:g.16167074A>G	NCBI36
NG_007558.2:g.62756T>C
NG_007558.3:g.62902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3213T>C	ENSP00000483331.2:p.Phe1071=
ENST00000205557.12:c.3213T>C MANE Select	ENSP00000205557.7:p.Phe1071=
ENST00000640696.1:c.228T>C	ENSP00000492197.1:p.Phe76=
ENST00000205557.11:c.3213T>C	ENSP00000205557.7:p.Phe1071=
ENST00000456970.6:c.3038T>C	ENSP00000405002.2:n.3038T>C
ENST00000622290.4:c.*422T>C	ENSP00000483331.1:n.*422T>C
NM_001171.5:c.3213T>C	NP_001162.4:p.Phe1071=
XM_011522479.1:c.3180T>C	XP_011520781.1:p.Phe1060=
XM_011522480.1:c.2871T>C	XP_011520782.1:p.Phe957=
XM_011522481.1:c.2871T>C	XP_011520783.1:p.Phe957=
XR_932836.1:n.3448T>C
XR_932837.1:n.3449T>C
XR_932838.1:n.3449T>C
NM_001351800.1:c.2871T>C	NP_001338729.1:p.Phe957=
NR_147784.1:n.3075T>C
XM_011522479.2:c.3180T>C	XP_011520781.1:p.Phe1060=
XM_011522481.3:c.2871T>C	XP_011520783.1:p.Phe957=
XM_017023212.1:c.3045T>C	XP_016878701.1:p.Phe1015=
XM_017023214.1:c.3213T>C	XP_016878703.1:p.Phe1071=
XM_024450261.1:c.3249T>C	XP_024306029.1:p.Phe1083=
XR_932836.2:n.3394T>C
XR_932837.3:n.3394T>C
XR_932838.3:n.3394T>C
NM_001171.6:c.3213T>C MANE Select	NP_001162.5:p.Phe1071=