Canonical Allele Identifier: CA394880654

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256917C>A (hg19) ; chr16:g.16163060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163060C>A , CM000678.2:g.16163060C>A	GRCh38
NC_000016.9:g.16256917C>A , CM000678.1:g.16256917C>A	GRCh37
NC_000016.8:g.16164418C>A	NCBI36
NG_007558.2:g.65412G>T
NG_007558.3:g.65558G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3439G>T	ENSP00000483331.2:p.Val1147Leu
ENST00000205557.12:c.3439G>T MANE Select	ENSP00000205557.7:p.Val1147Leu
ENST00000640696.1:c.321-1496G>T	ENSP00000492197.1:n.321-1496G>T
ENST00000205557.11:c.3439G>T	ENSP00000205557.7:p.Val1147Leu
ENST00000456970.6:c.3132-1496G>T	ENSP00000405002.2:n.3132-1496G>T
ENST00000622290.4:c.*648G>T	ENSP00000483331.1:n.*648G>T
NM_001171.5:c.3439G>T	NP_001162.4:p.Val1147Leu
XM_011522479.1:c.3406G>T	XP_011520781.1:p.Val1136Leu
XM_011522480.1:c.3097G>T	XP_011520782.1:p.Val1033Leu
XM_011522481.1:c.3097G>T	XP_011520783.1:p.Val1033Leu
XR_932836.1:n.3674G>T
XR_932837.1:n.3543-1496G>T
XR_932838.1:n.3543-1496G>T
XR_933133.1:n.407+217C>A
XR_933134.1:n.754+217C>A
NM_001351800.1:c.3097G>T	NP_001338729.1:p.Val1033Leu
NR_147784.1:n.3169-1496G>T
XM_011522479.2:c.3406G>T	XP_011520781.1:p.Val1136Leu
XM_011522481.3:c.3097G>T	XP_011520783.1:p.Val1033Leu
XM_017023212.1:c.3271G>T	XP_016878701.1:p.Val1091Leu
XM_017023214.1:c.3307-1496G>T	XP_016878703.1:n.3307-1496G>T
XM_024450261.1:c.3475G>T	XP_024306029.1:p.Val1159Leu
XR_932836.2:n.3620G>T
XR_932837.3:n.3488-1496G>T
XR_932838.3:n.3488-1496G>T
NM_001171.6:c.3439G>T MANE Select	NP_001162.5:p.Val1147Leu