Canonical Allele Identifier: CA494088366

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16165728-C-G
• MyVariant Identifiers: chr16:g.16259585C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165728C>G , CM000678.2:g.16165728C>G	GRCh38
NC_000016.9:g.16259585C>G , CM000678.1:g.16259585C>G	GRCh37
NC_000016.8:g.16167086C>G	NCBI36
NG_007558.2:g.62744G>C
NG_007558.3:g.62890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3201G>C	ENSP00000483331.2:p.Leu1067=
ENST00000205557.12:c.3201G>C MANE Select	ENSP00000205557.7:p.Leu1067=
ENST00000640696.1:c.216G>C	ENSP00000492197.1:p.Leu72=
ENST00000205557.11:c.3201G>C	ENSP00000205557.7:p.Leu1067=
ENST00000456970.6:c.3026G>C	ENSP00000405002.2:n.3026G>C
ENST00000622290.4:c.*410G>C	ENSP00000483331.1:n.*410G>C
NM_001171.5:c.3201G>C	NP_001162.4:p.Leu1067=
XM_011522479.1:c.3168G>C	XP_011520781.1:p.Leu1056=
XM_011522480.1:c.2859G>C	XP_011520782.1:p.Leu953=
XM_011522481.1:c.2859G>C	XP_011520783.1:p.Leu953=
XR_932836.1:n.3436G>C
XR_932837.1:n.3437G>C
XR_932838.1:n.3437G>C
NM_001351800.1:c.2859G>C	NP_001338729.1:p.Leu953=
NR_147784.1:n.3063G>C
XM_011522479.2:c.3168G>C	XP_011520781.1:p.Leu1056=
XM_011522481.3:c.2859G>C	XP_011520783.1:p.Leu953=
XM_017023212.1:c.3033G>C	XP_016878701.1:p.Leu1011=
XM_017023214.1:c.3201G>C	XP_016878703.1:p.Leu1067=
XM_024450261.1:c.3237G>C	XP_024306029.1:p.Leu1079=
XR_932836.2:n.3382G>C
XR_932837.3:n.3382G>C
XR_932838.3:n.3382G>C
NM_001171.6:c.3201G>C MANE Select	NP_001162.5:p.Leu1067=