Canonical Allele Identifier: CA494088368

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259587G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165730G>A , CM000678.2:g.16165730G>A	GRCh38
NC_000016.9:g.16259587G>A , CM000678.1:g.16259587G>A	GRCh37
NC_000016.8:g.16167088G>A	NCBI36
NG_007558.2:g.62742C>T
NG_007558.3:g.62888C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3199C>T	ENSP00000483331.2:p.Leu1067=
ENST00000205557.12:c.3199C>T MANE Select	ENSP00000205557.7:p.Leu1067=
ENST00000640696.1:c.214C>T	ENSP00000492197.1:p.Leu72=
ENST00000205557.11:c.3199C>T	ENSP00000205557.7:p.Leu1067=
ENST00000456970.6:c.3024C>T	ENSP00000405002.2:n.3024C>T
ENST00000622290.4:c.*408C>T	ENSP00000483331.1:n.*408C>T
NM_001171.5:c.3199C>T	NP_001162.4:p.Leu1067=
XM_011522479.1:c.3166C>T	XP_011520781.1:p.Leu1056=
XM_011522480.1:c.2857C>T	XP_011520782.1:p.Leu953=
XM_011522481.1:c.2857C>T	XP_011520783.1:p.Leu953=
XR_932836.1:n.3434C>T
XR_932837.1:n.3435C>T
XR_932838.1:n.3435C>T
NM_001351800.1:c.2857C>T	NP_001338729.1:p.Leu953=
NR_147784.1:n.3061C>T
XM_011522479.2:c.3166C>T	XP_011520781.1:p.Leu1056=
XM_011522481.3:c.2857C>T	XP_011520783.1:p.Leu953=
XM_017023212.1:c.3031C>T	XP_016878701.1:p.Leu1011=
XM_017023214.1:c.3199C>T	XP_016878703.1:p.Leu1067=
XM_024450261.1:c.3235C>T	XP_024306029.1:p.Leu1079=
XR_932836.2:n.3380C>T
XR_932837.3:n.3380C>T
XR_932838.3:n.3380C>T
NM_001171.6:c.3199C>T MANE Select	NP_001162.5:p.Leu1067=