Canonical Allele Identifier: CA394876276

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248882T>G (hg19) ; chr16:g.16155025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155025T>G , CM000678.2:g.16155025T>G	GRCh38
NC_000016.9:g.16248882T>G , CM000678.1:g.16248882T>G	GRCh37
NC_000016.8:g.16156383T>G	NCBI36
NG_007558.2:g.73447A>C
NG_007558.3:g.73593A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.752A>C
ENST00000622290.5:c.*61A>C	ENSP00000483331.2:n.*61A>C
ENST00000205557.12:c.3889A>C MANE Select	ENSP00000205557.7:p.Ile1297Leu
ENST00000640696.1:c.703A>C	ENSP00000492197.1:p.Ile235Leu
ENST00000205557.11:c.3889A>C	ENSP00000205557.7:p.Ile1297Leu
ENST00000456970.6:c.3514A>C	ENSP00000405002.2:n.3514A>C
ENST00000576204.5:n.752A>C
ENST00000622290.4:c.*1098A>C	ENSP00000483331.1:n.*1098A>C
NM_001171.5:c.3889A>C	NP_001162.4:p.Ile1297Leu
XM_011522479.1:c.3856A>C	XP_011520781.1:p.Ile1286Leu
XM_011522480.1:c.3547A>C	XP_011520782.1:p.Ile1183Leu
XM_011522481.1:c.3547A>C	XP_011520783.1:p.Ile1183Leu
XR_932836.1:n.4187A>C
XR_932837.1:n.3925A>C
XR_932838.1:n.3988A>C
XR_933134.1:n.539-4756T>G
NM_001351800.1:c.3547A>C	NP_001338729.1:p.Ile1183Leu
NR_147784.1:n.3551A>C
XM_011522479.2:c.3856A>C	XP_011520781.1:p.Ile1286Leu
XM_011522481.3:c.3547A>C	XP_011520783.1:p.Ile1183Leu
XM_017023212.1:c.3721A>C	XP_016878701.1:p.Ile1241Leu
XM_024450261.1:c.3925A>C	XP_024306029.1:p.Ile1309Leu
XR_932836.2:n.4133A>C
XR_932837.3:n.3870A>C
XR_932838.3:n.3933A>C
NM_001171.6:c.3889A>C MANE Select	NP_001162.5:p.Ile1297Leu