Canonical Allele Identifier: CA394880308

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256856G>A (hg19) ; chr16:g.16162999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16162999G>A , CM000678.2:g.16162999G>A	GRCh38
NC_000016.9:g.16256856G>A , CM000678.1:g.16256856G>A	GRCh37
NC_000016.8:g.16164357G>A	NCBI36
NG_007558.2:g.65473C>T
NG_007558.3:g.65619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3500C>T	ENSP00000483331.2:p.Ala1167Val
ENST00000205557.12:c.3500C>T MANE Select	ENSP00000205557.7:p.Ala1167Val
ENST00000640696.1:c.321-1435C>T	ENSP00000492197.1:n.321-1435C>T
ENST00000205557.11:c.3500C>T	ENSP00000205557.7:p.Ala1167Val
ENST00000456970.6:c.3132-1435C>T	ENSP00000405002.2:n.3132-1435C>T
ENST00000622290.4:c.*709C>T	ENSP00000483331.1:n.*709C>T
NM_001171.5:c.3500C>T	NP_001162.4:p.Ala1167Val
XM_011522479.1:c.3467C>T	XP_011520781.1:p.Ala1156Val
XM_011522480.1:c.3158C>T	XP_011520782.1:p.Ala1053Val
XM_011522481.1:c.3158C>T	XP_011520783.1:p.Ala1053Val
XR_932836.1:n.3735C>T
XR_932837.1:n.3543-1435C>T
XR_932838.1:n.3543-1435C>T
XR_933133.1:n.407+156G>A
XR_933134.1:n.754+156G>A
NM_001351800.1:c.3158C>T	NP_001338729.1:p.Ala1053Val
NR_147784.1:n.3169-1435C>T
XM_011522479.2:c.3467C>T	XP_011520781.1:p.Ala1156Val
XM_011522481.3:c.3158C>T	XP_011520783.1:p.Ala1053Val
XM_017023212.1:c.3332C>T	XP_016878701.1:p.Ala1111Val
XM_017023214.1:c.3307-1435C>T	XP_016878703.1:n.3307-1435C>T
XM_024450261.1:c.3536C>T	XP_024306029.1:p.Ala1179Val
XR_932836.2:n.3681C>T
XR_932837.3:n.3488-1435C>T
XR_932838.3:n.3488-1435C>T
NM_001171.6:c.3500C>T MANE Select	NP_001162.5:p.Ala1167Val