Canonical Allele Identifier: CA493799301

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244092C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150235C>G , CM000678.2:g.16150235C>G	GRCh38
NC_000016.9:g.16244092C>G , CM000678.1:g.16244092C>G	GRCh37
NC_000016.8:g.16151593C>G	NCBI36
NG_007558.2:g.78237G>C
NG_007558.3:g.78383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*582G>C	ENSP00000483331.2:n.*582G>C
ENST00000205557.12:c.4410G>C MANE Select	ENSP00000205557.7:p.Leu1470=
ENST00000640696.1:c.1224G>C	ENSP00000492197.1:p.Leu408=
ENST00000205557.11:c.4410G>C	ENSP00000205557.7:p.Leu1470=
ENST00000456970.6:c.4035G>C	ENSP00000405002.2:n.4035G>C
ENST00000576204.5:n.1273G>C
ENST00000622290.4:c.*1619G>C	ENSP00000483331.1:n.*1619G>C
NM_001171.5:c.4410G>C	NP_001162.4:p.Leu1470=
XM_011522479.1:c.4377G>C	XP_011520781.1:p.Leu1459=
XM_011522480.1:c.4068G>C	XP_011520782.1:p.Leu1356=
XM_011522481.1:c.4068G>C	XP_011520783.1:p.Leu1356=
XR_933134.1:n.538+5945C>G
NM_001351800.1:c.4068G>C	NP_001338729.1:p.Leu1356=
NR_147784.1:n.4072G>C
XM_011522479.2:c.4377G>C	XP_011520781.1:p.Leu1459=
XM_011522481.3:c.4068G>C	XP_011520783.1:p.Leu1356=
XM_017023212.1:c.4242G>C	XP_016878701.1:p.Leu1414=
XM_024450261.1:c.4446G>C	XP_024306029.1:p.Leu1482=
NM_001171.6:c.4410G>C MANE Select	NP_001162.5:p.Leu1470=