Canonical Allele Identifier: CA494088269

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259510C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165653C>A , CM000678.2:g.16165653C>A	GRCh38
NC_000016.9:g.16259510C>A , CM000678.1:g.16259510C>A	GRCh37
NC_000016.8:g.16167011C>A	NCBI36
NG_007558.2:g.62819G>T
NG_007558.3:g.62965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3276G>T	ENSP00000483331.2:p.Leu1092=
ENST00000205557.12:c.3276G>T MANE Select	ENSP00000205557.7:p.Leu1092=
ENST00000640696.1:c.290G>T	ENSP00000492197.1:p.Cys97Phe
ENST00000205557.11:c.3276G>T	ENSP00000205557.7:p.Leu1092=
ENST00000456970.6:c.3101G>T	ENSP00000405002.2:n.3101G>T
ENST00000622290.4:c.*485G>T	ENSP00000483331.1:n.*485G>T
NM_001171.5:c.3276G>T	NP_001162.4:p.Leu1092=
XM_011522479.1:c.3243G>T	XP_011520781.1:p.Leu1081=
XM_011522480.1:c.2934G>T	XP_011520782.1:p.Leu978=
XM_011522481.1:c.2934G>T	XP_011520783.1:p.Leu978=
XR_932836.1:n.3511G>T
XR_932837.1:n.3512G>T
XR_932838.1:n.3512G>T
NM_001351800.1:c.2934G>T	NP_001338729.1:p.Leu978=
NR_147784.1:n.3138G>T
XM_011522479.2:c.3243G>T	XP_011520781.1:p.Leu1081=
XM_011522481.3:c.2934G>T	XP_011520783.1:p.Leu978=
XM_017023212.1:c.3108G>T	XP_016878701.1:p.Leu1036=
XM_017023214.1:c.3276G>T	XP_016878703.1:p.Leu1092=
XM_024450261.1:c.3312G>T	XP_024306029.1:p.Leu1104=
XR_932836.2:n.3457G>T
XR_932837.3:n.3457G>T
XR_932838.3:n.3457G>T
NM_001171.6:c.3276G>T MANE Select	NP_001162.5:p.Leu1092=