Canonical Allele Identifier: CA394883789

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244496A>G (hg19) ; chr16:g.16150639A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150639A>G , CM000678.2:g.16150639A>G	GRCh38
NC_000016.9:g.16244496A>G , CM000678.1:g.16244496A>G	GRCh37
NC_000016.8:g.16151997A>G	NCBI36
NG_007558.2:g.77833T>C
NG_007558.3:g.77979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*514T>C	ENSP00000483331.2:n.*514T>C
ENST00000205557.12:c.4342T>C MANE Select	ENSP00000205557.7:p.Phe1448Leu
ENST00000640696.1:c.1156T>C	ENSP00000492197.1:p.Phe386Leu
ENST00000205557.11:c.4342T>C	ENSP00000205557.7:p.Phe1448Leu
ENST00000456970.6:c.3967T>C	ENSP00000405002.2:n.3967T>C
ENST00000576204.5:n.1205T>C
ENST00000622290.4:c.*1551T>C	ENSP00000483331.1:n.*1551T>C
NM_001171.5:c.4342T>C	NP_001162.4:p.Phe1448Leu
XM_011522479.1:c.4309T>C	XP_011520781.1:p.Phe1437Leu
XM_011522480.1:c.4000T>C	XP_011520782.1:p.Phe1334Leu
XM_011522481.1:c.4000T>C	XP_011520783.1:p.Phe1334Leu
XR_933134.1:n.538+6349A>G
NM_001351800.1:c.4000T>C	NP_001338729.1:p.Phe1334Leu
NR_147784.1:n.4004T>C
XM_011522479.2:c.4309T>C	XP_011520781.1:p.Phe1437Leu
XM_011522481.3:c.4000T>C	XP_011520783.1:p.Phe1334Leu
XM_017023212.1:c.4174T>C	XP_016878701.1:p.Phe1392Leu
XM_024450261.1:c.4378T>C	XP_024306029.1:p.Phe1460Leu
NM_001171.6:c.4342T>C MANE Select	NP_001162.5:p.Phe1448Leu