Canonical Allele Identifier: CA493799363

Gene: ABCC6

Linked Data

• dbSNP Id: rs1567484484
• COSMIC: COSM3506436
• MyVariant Identifiers: chr16:g.16263549C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169692C>T , CM000678.2:g.16169692C>T	GRCh38
NC_000016.9:g.16263549C>T , CM000678.1:g.16263549C>T	GRCh37
NC_000016.8:g.16171050C>T	NCBI36
NG_007558.2:g.58780G>A
NG_007558.3:g.58926G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2949G>A	ENSP00000483331.2:p.Gln983=
ENST00000205557.12:c.2949G>A MANE Select	ENSP00000205557.7:p.Gln983=
ENST00000205557.11:c.2949G>A	ENSP00000205557.7:p.Gln983=
ENST00000456970.6:c.2774G>A	ENSP00000405002.2:n.2774G>A
ENST00000622290.4:c.*158G>A	ENSP00000483331.1:n.*158G>A
NM_001171.5:c.2949G>A	NP_001162.4:p.Gln983=
XM_011522479.1:c.2916G>A	XP_011520781.1:p.Gln972=
XM_011522480.1:c.2607G>A	XP_011520782.1:p.Gln869=
XM_011522481.1:c.2607G>A	XP_011520783.1:p.Gln869=
XR_932836.1:n.3184G>A
XR_932837.1:n.3185G>A
XR_932838.1:n.3185G>A
NM_001351800.1:c.2607G>A	NP_001338729.1:p.Gln869=
NR_147784.1:n.2811G>A
XM_011522479.2:c.2916G>A	XP_011520781.1:p.Gln972=
XM_011522481.3:c.2607G>A	XP_011520783.1:p.Gln869=
XM_017023212.1:c.2781G>A	XP_016878701.1:p.Gln927=
XM_017023214.1:c.2949G>A	XP_016878703.1:p.Gln983=
XM_024450261.1:c.2985G>A	XP_024306029.1:p.Gln995=
XR_932836.2:n.3130G>A
XR_932837.3:n.3130G>A
XR_932838.3:n.3130G>A
NM_001171.6:c.2949G>A MANE Select	NP_001162.5:p.Gln983=