Canonical Allele Identifier: CA494088265

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259506G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165649G>A , CM000678.2:g.16165649G>A	GRCh38
NC_000016.9:g.16259506G>A , CM000678.1:g.16259506G>A	GRCh37
NC_000016.8:g.16167007G>A	NCBI36
NG_007558.2:g.62823C>T
NG_007558.3:g.62969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3280C>T	ENSP00000483331.2:p.Leu1094=
ENST00000205557.12:c.3280C>T MANE Select	ENSP00000205557.7:p.Leu1094=
ENST00000640696.1:c.294C>T	ENSP00000492197.1:p.His98=
ENST00000205557.11:c.3280C>T	ENSP00000205557.7:p.Leu1094=
ENST00000456970.6:c.3105C>T	ENSP00000405002.2:n.3105C>T
ENST00000622290.4:c.*489C>T	ENSP00000483331.1:n.*489C>T
NM_001171.5:c.3280C>T	NP_001162.4:p.Leu1094=
XM_011522479.1:c.3247C>T	XP_011520781.1:p.Leu1083=
XM_011522480.1:c.2938C>T	XP_011520782.1:p.Leu980=
XM_011522481.1:c.2938C>T	XP_011520783.1:p.Leu980=
XR_932836.1:n.3515C>T
XR_932837.1:n.3516C>T
XR_932838.1:n.3516C>T
NM_001351800.1:c.2938C>T	NP_001338729.1:p.Leu980=
NR_147784.1:n.3142C>T
XM_011522479.2:c.3247C>T	XP_011520781.1:p.Leu1083=
XM_011522481.3:c.2938C>T	XP_011520783.1:p.Leu980=
XM_017023212.1:c.3112C>T	XP_016878701.1:p.Leu1038=
XM_017023214.1:c.3280C>T	XP_016878703.1:p.Leu1094=
XM_024450261.1:c.3316C>T	XP_024306029.1:p.Leu1106=
XR_932836.2:n.3461C>T
XR_932837.3:n.3461C>T
XR_932838.3:n.3461C>T
NM_001171.6:c.3280C>T MANE Select	NP_001162.5:p.Leu1094=