Canonical Allele Identifier: CA493799349

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046995069
• MyVariant Identifiers: chr16:g.16263540C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169683C>T , CM000678.2:g.16169683C>T	GRCh38
NC_000016.9:g.16263540C>T , CM000678.1:g.16263540C>T	GRCh37
NC_000016.8:g.16171041C>T	NCBI36
NG_007558.2:g.58789G>A
NG_007558.3:g.58935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2958G>A	ENSP00000483331.2:p.Leu986=
ENST00000205557.12:c.2958G>A MANE Select	ENSP00000205557.7:p.Leu986=
ENST00000205557.11:c.2958G>A	ENSP00000205557.7:p.Leu986=
ENST00000456970.6:c.2783G>A	ENSP00000405002.2:n.2783G>A
ENST00000622290.4:c.*167G>A	ENSP00000483331.1:n.*167G>A
NM_001171.5:c.2958G>A	NP_001162.4:p.Leu986=
XM_011522479.1:c.2925G>A	XP_011520781.1:p.Leu975=
XM_011522480.1:c.2616G>A	XP_011520782.1:p.Leu872=
XM_011522481.1:c.2616G>A	XP_011520783.1:p.Leu872=
XR_932836.1:n.3193G>A
XR_932837.1:n.3194G>A
XR_932838.1:n.3194G>A
NM_001351800.1:c.2616G>A	NP_001338729.1:p.Leu872=
NR_147784.1:n.2820G>A
XM_011522479.2:c.2925G>A	XP_011520781.1:p.Leu975=
XM_011522481.3:c.2616G>A	XP_011520783.1:p.Leu872=
XM_017023212.1:c.2790G>A	XP_016878701.1:p.Leu930=
XM_017023214.1:c.2958G>A	XP_016878703.1:p.Leu986=
XM_024450261.1:c.2994G>A	XP_024306029.1:p.Leu998=
XR_932836.2:n.3139G>A
XR_932837.3:n.3139G>A
XR_932838.3:n.3139G>A
NM_001171.6:c.2958G>A MANE Select	NP_001162.5:p.Leu986=