Canonical Allele Identifier: CA278628791

Gene: ABCC6

Error

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159541G>T , CM000678.2:g.16159541G>T	GRCh38
NC_000016.9:g.16253398G>T , CM000678.1:g.16253398G>T	GRCh37
NC_000016.8:g.16160899G>T	NCBI36
NG_007558.2:g.68931C>A
NG_007558.3:g.69077C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3676C>A	ENSP00000483331.2:p.Leu1226Ile
ENST00000205557.12:c.3676C>A MANE Select	ENSP00000205557.7:p.Leu1226Ile
ENST00000640696.1:c.490C>A	ENSP00000492197.1:p.Leu164Ile
ENST00000205557.11:c.3676C>A	ENSP00000205557.7:p.Leu1226Ile
ENST00000456970.6:c.3301C>A	ENSP00000405002.2:n.3301C>A
ENST00000622290.4:c.*885C>A	ENSP00000483331.1:n.*885C>A
NM_001171.5:c.3676C>A	NP_001162.4:p.Leu1226Ile
XM_011522479.1:c.3643C>A	XP_011520781.1:p.Leu1215Ile
XM_011522480.1:c.3334C>A	XP_011520782.1:p.Leu1112Ile
XM_011522481.1:c.3334C>A	XP_011520783.1:p.Leu1112Ile
XR_932836.1:n.3911C>A
XR_932837.1:n.3712C>A
XR_932838.1:n.3712C>A
XR_933134.1:n.539-240G>T
NM_001351800.1:c.3334C>A	NP_001338729.1:p.Leu1112Ile
NR_147784.1:n.3338C>A
XM_011522479.2:c.3643C>A	XP_011520781.1:p.Leu1215Ile
XM_011522481.3:c.3334C>A	XP_011520783.1:p.Leu1112Ile
XM_017023212.1:c.3508C>A	XP_016878701.1:p.Leu1170Ile
XM_024450261.1:c.3712C>A	XP_024306029.1:p.Leu1238Ile
XR_932836.2:n.3857C>A
XR_932837.3:n.3657C>A
XR_932838.3:n.3657C>A
NM_001171.6:c.3676C>A MANE Select	NP_001162.5:p.Leu1226Ile