Canonical Allele Identifier: CA394881536

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256967G>T (hg19) ; chr16:g.16163110G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163110G>T , CM000678.2:g.16163110G>T	GRCh38
NC_000016.9:g.16256967G>T , CM000678.1:g.16256967G>T	GRCh37
NC_000016.8:g.16164468G>T	NCBI36
NG_007558.2:g.65362C>A
NG_007558.3:g.65508C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3389C>A	ENSP00000483331.2:p.Thr1130Lys
ENST00000205557.12:c.3389C>A MANE Select	ENSP00000205557.7:p.Thr1130Lys
ENST00000640696.1:c.321-1546C>A	ENSP00000492197.1:n.321-1546C>A
ENST00000205557.11:c.3389C>A	ENSP00000205557.7:p.Thr1130Lys
ENST00000456970.6:c.3132-1546C>A	ENSP00000405002.2:n.3132-1546C>A
ENST00000622290.4:c.*598C>A	ENSP00000483331.1:n.*598C>A
NM_001171.5:c.3389C>A	NP_001162.4:p.Thr1130Lys
XM_011522479.1:c.3356C>A	XP_011520781.1:p.Thr1119Lys
XM_011522480.1:c.3047C>A	XP_011520782.1:p.Thr1016Lys
XM_011522481.1:c.3047C>A	XP_011520783.1:p.Thr1016Lys
XR_932836.1:n.3624C>A
XR_932837.1:n.3543-1546C>A
XR_932838.1:n.3543-1546C>A
XR_933133.1:n.407+267G>T
XR_933134.1:n.754+267G>T
NM_001351800.1:c.3047C>A	NP_001338729.1:p.Thr1016Lys
NR_147784.1:n.3169-1546C>A
XM_011522479.2:c.3356C>A	XP_011520781.1:p.Thr1119Lys
XM_011522481.3:c.3047C>A	XP_011520783.1:p.Thr1016Lys
XM_017023212.1:c.3221C>A	XP_016878701.1:p.Thr1074Lys
XM_017023214.1:c.3307-1546C>A	XP_016878703.1:n.3307-1546C>A
XM_024450261.1:c.3425C>A	XP_024306029.1:p.Thr1142Lys
XR_932836.2:n.3570C>A
XR_932837.3:n.3488-1546C>A
XR_932838.3:n.3488-1546C>A
NM_001171.6:c.3389C>A MANE Select	NP_001162.5:p.Thr1130Lys