Canonical Allele Identifier: CA394880349

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256862A>T (hg19) ; chr16:g.16163005A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163005A>T , CM000678.2:g.16163005A>T	GRCh38
NC_000016.9:g.16256862A>T , CM000678.1:g.16256862A>T	GRCh37
NC_000016.8:g.16164363A>T	NCBI36
NG_007558.2:g.65467T>A
NG_007558.3:g.65613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3494T>A	ENSP00000483331.2:p.Leu1165Gln
ENST00000205557.12:c.3494T>A MANE Select	ENSP00000205557.7:p.Leu1165Gln
ENST00000640696.1:c.321-1441T>A	ENSP00000492197.1:n.321-1441T>A
ENST00000205557.11:c.3494T>A	ENSP00000205557.7:p.Leu1165Gln
ENST00000456970.6:c.3132-1441T>A	ENSP00000405002.2:n.3132-1441T>A
ENST00000622290.4:c.*703T>A	ENSP00000483331.1:n.*703T>A
NM_001171.5:c.3494T>A	NP_001162.4:p.Leu1165Gln
XM_011522479.1:c.3461T>A	XP_011520781.1:p.Leu1154Gln
XM_011522480.1:c.3152T>A	XP_011520782.1:p.Leu1051Gln
XM_011522481.1:c.3152T>A	XP_011520783.1:p.Leu1051Gln
XR_932836.1:n.3729T>A
XR_932837.1:n.3543-1441T>A
XR_932838.1:n.3543-1441T>A
XR_933133.1:n.407+162A>T
XR_933134.1:n.754+162A>T
NM_001351800.1:c.3152T>A	NP_001338729.1:p.Leu1051Gln
NR_147784.1:n.3169-1441T>A
XM_011522479.2:c.3461T>A	XP_011520781.1:p.Leu1154Gln
XM_011522481.3:c.3152T>A	XP_011520783.1:p.Leu1051Gln
XM_017023212.1:c.3326T>A	XP_016878701.1:p.Leu1109Gln
XM_017023214.1:c.3307-1441T>A	XP_016878703.1:n.3307-1441T>A
XM_024450261.1:c.3530T>A	XP_024306029.1:p.Leu1177Gln
XR_932836.2:n.3675T>A
XR_932837.3:n.3488-1441T>A
XR_932838.3:n.3488-1441T>A
NM_001171.6:c.3494T>A MANE Select	NP_001162.5:p.Leu1165Gln