Canonical Allele Identifier: CA493798060

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253411G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159554G>T , CM000678.2:g.16159554G>T	GRCh38
NC_000016.9:g.16253411G>T , CM000678.1:g.16253411G>T	GRCh37
NC_000016.8:g.16160912G>T	NCBI36
NG_007558.2:g.68918C>A
NG_007558.3:g.69064C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3663C>A	ENSP00000483331.2:p.Arg1221=
ENST00000205557.12:c.3663C>A MANE Select	ENSP00000205557.7:p.Arg1221=
ENST00000640696.1:c.477C>A	ENSP00000492197.1:p.Arg159=
ENST00000205557.11:c.3663C>A	ENSP00000205557.7:p.Arg1221=
ENST00000456970.6:c.3288C>A	ENSP00000405002.2:n.3288C>A
ENST00000622290.4:c.*872C>A	ENSP00000483331.1:n.*872C>A
NM_001171.5:c.3663C>A	NP_001162.4:p.Arg1221=
XM_011522479.1:c.3630C>A	XP_011520781.1:p.Arg1210=
XM_011522480.1:c.3321C>A	XP_011520782.1:p.Arg1107=
XM_011522481.1:c.3321C>A	XP_011520783.1:p.Arg1107=
XR_932836.1:n.3898C>A
XR_932837.1:n.3699C>A
XR_932838.1:n.3699C>A
XR_933134.1:n.539-227G>T
NM_001351800.1:c.3321C>A	NP_001338729.1:p.Arg1107=
NR_147784.1:n.3325C>A
XM_011522479.2:c.3630C>A	XP_011520781.1:p.Arg1210=
XM_011522481.3:c.3321C>A	XP_011520783.1:p.Arg1107=
XM_017023212.1:c.3495C>A	XP_016878701.1:p.Arg1165=
XM_024450261.1:c.3699C>A	XP_024306029.1:p.Arg1233=
XR_932836.2:n.3844C>A
XR_932837.3:n.3644C>A
XR_932838.3:n.3644C>A
NM_001171.6:c.3663C>A MANE Select	NP_001162.5:p.Arg1221=