Canonical Allele Identifier: CA494088260

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259498G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165641G>T , CM000678.2:g.16165641G>T	GRCh38
NC_000016.9:g.16259498G>T , CM000678.1:g.16259498G>T	GRCh37
NC_000016.8:g.16166999G>T	NCBI36
NG_007558.2:g.62831C>A
NG_007558.3:g.62977C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3288C>A	ENSP00000483331.2:p.Leu1096=
ENST00000205557.12:c.3288C>A MANE Select	ENSP00000205557.7:p.Leu1096=
ENST00000640696.1:c.302C>A	ENSP00000492197.1:p.Ser101Tyr
ENST00000205557.11:c.3288C>A	ENSP00000205557.7:p.Leu1096=
ENST00000456970.6:c.3113C>A	ENSP00000405002.2:n.3113C>A
ENST00000622290.4:c.*497C>A	ENSP00000483331.1:n.*497C>A
NM_001171.5:c.3288C>A	NP_001162.4:p.Leu1096=
XM_011522479.1:c.3255C>A	XP_011520781.1:p.Leu1085=
XM_011522480.1:c.2946C>A	XP_011520782.1:p.Leu982=
XM_011522481.1:c.2946C>A	XP_011520783.1:p.Leu982=
XR_932836.1:n.3523C>A
XR_932837.1:n.3524C>A
XR_932838.1:n.3524C>A
NM_001351800.1:c.2946C>A	NP_001338729.1:p.Leu982=
NR_147784.1:n.3150C>A
XM_011522479.2:c.3255C>A	XP_011520781.1:p.Leu1085=
XM_011522481.3:c.2946C>A	XP_011520783.1:p.Leu982=
XM_017023212.1:c.3120C>A	XP_016878701.1:p.Leu1040=
XM_017023214.1:c.3288C>A	XP_016878703.1:p.Leu1096=
XM_024450261.1:c.3324C>A	XP_024306029.1:p.Leu1108=
XR_932836.2:n.3469C>A
XR_932837.3:n.3469C>A
XR_932838.3:n.3469C>A
NM_001171.6:c.3288C>A MANE Select	NP_001162.5:p.Leu1096=