Canonical Allele Identifier: CA394880506

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256888T>A (hg19) ; chr16:g.16163031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163031T>A , CM000678.2:g.16163031T>A	GRCh38
NC_000016.9:g.16256888T>A , CM000678.1:g.16256888T>A	GRCh37
NC_000016.8:g.16164389T>A	NCBI36
NG_007558.2:g.65441A>T
NG_007558.3:g.65587A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3468A>T	ENSP00000483331.2:p.Glu1156Asp
ENST00000205557.12:c.3468A>T MANE Select	ENSP00000205557.7:p.Glu1156Asp
ENST00000640696.1:c.321-1467A>T	ENSP00000492197.1:n.321-1467A>T
ENST00000205557.11:c.3468A>T	ENSP00000205557.7:p.Glu1156Asp
ENST00000456970.6:c.3132-1467A>T	ENSP00000405002.2:n.3132-1467A>T
ENST00000622290.4:c.*677A>T	ENSP00000483331.1:n.*677A>T
NM_001171.5:c.3468A>T	NP_001162.4:p.Glu1156Asp
XM_011522479.1:c.3435A>T	XP_011520781.1:p.Glu1145Asp
XM_011522480.1:c.3126A>T	XP_011520782.1:p.Glu1042Asp
XM_011522481.1:c.3126A>T	XP_011520783.1:p.Glu1042Asp
XR_932836.1:n.3703A>T
XR_932837.1:n.3543-1467A>T
XR_932838.1:n.3543-1467A>T
XR_933133.1:n.407+188T>A
XR_933134.1:n.754+188T>A
NM_001351800.1:c.3126A>T	NP_001338729.1:p.Glu1042Asp
NR_147784.1:n.3169-1467A>T
XM_011522479.2:c.3435A>T	XP_011520781.1:p.Glu1145Asp
XM_011522481.3:c.3126A>T	XP_011520783.1:p.Glu1042Asp
XM_017023212.1:c.3300A>T	XP_016878701.1:p.Glu1100Asp
XM_017023214.1:c.3307-1467A>T	XP_016878703.1:n.3307-1467A>T
XM_024450261.1:c.3504A>T	XP_024306029.1:p.Glu1168Asp
XR_932836.2:n.3649A>T
XR_932837.3:n.3488-1467A>T
XR_932838.3:n.3488-1467A>T
NM_001171.6:c.3468A>T MANE Select	NP_001162.5:p.Glu1156Asp