Canonical Allele Identifier: CA394875702

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248804T>G (hg19) ; chr16:g.16154947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154947T>G , CM000678.2:g.16154947T>G	GRCh38
NC_000016.9:g.16248804T>G , CM000678.1:g.16248804T>G	GRCh37
NC_000016.8:g.16156305T>G	NCBI36
NG_007558.2:g.73525A>C
NG_007558.3:g.73671A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.830A>C
ENST00000622290.5:c.*139A>C	ENSP00000483331.2:n.*139A>C
ENST00000205557.12:c.3967A>C MANE Select	ENSP00000205557.7:p.Ile1323Leu
ENST00000640696.1:c.781A>C	ENSP00000492197.1:p.Ile261Leu
ENST00000205557.11:c.3967A>C	ENSP00000205557.7:p.Ile1323Leu
ENST00000456970.6:c.3592A>C	ENSP00000405002.2:n.3592A>C
ENST00000576204.5:n.830A>C
ENST00000622290.4:c.*1176A>C	ENSP00000483331.1:n.*1176A>C
NM_001171.5:c.3967A>C	NP_001162.4:p.Ile1323Leu
XM_011522479.1:c.3934A>C	XP_011520781.1:p.Ile1312Leu
XM_011522480.1:c.3625A>C	XP_011520782.1:p.Ile1209Leu
XM_011522481.1:c.3625A>C	XP_011520783.1:p.Ile1209Leu
XR_932836.1:n.4265A>C
XR_932837.1:n.4003A>C
XR_932838.1:n.4066A>C
XR_933134.1:n.539-4834T>G
NM_001351800.1:c.3625A>C	NP_001338729.1:p.Ile1209Leu
NR_147784.1:n.3629A>C
XM_011522479.2:c.3934A>C	XP_011520781.1:p.Ile1312Leu
XM_011522481.3:c.3625A>C	XP_011520783.1:p.Ile1209Leu
XM_017023212.1:c.3799A>C	XP_016878701.1:p.Ile1267Leu
XM_024450261.1:c.4003A>C	XP_024306029.1:p.Ile1335Leu
XR_932837.3:n.3948A>C
NM_001171.6:c.3967A>C MANE Select	NP_001162.5:p.Ile1323Leu