Canonical Allele Identifier: CA394875701

Gene: ABCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.830A>G
ENST00000622290.5:c.*139A>G	ENSP00000483331.2:n.*139A>G
ENST00000205557.12:c.3967A>G MANE Select	ENSP00000205557.7:p.Ile1323Val
ENST00000640696.1:c.781A>G	ENSP00000492197.1:p.Ile261Val
ENST00000205557.11:c.3967A>G	ENSP00000205557.7:p.Ile1323Val
ENST00000456970.6:c.3592A>G	ENSP00000405002.2:n.3592A>G
ENST00000576204.5:n.830A>G
ENST00000622290.4:c.*1176A>G	ENSP00000483331.1:n.*1176A>G
NM_001171.5:c.3967A>G	NP_001162.4:p.Ile1323Val
XM_011522479.1:c.3934A>G	XP_011520781.1:p.Ile1312Val
XM_011522480.1:c.3625A>G	XP_011520782.1:p.Ile1209Val
XM_011522481.1:c.3625A>G	XP_011520783.1:p.Ile1209Val
XR_932836.1:n.4265A>G
XR_932837.1:n.4003A>G
XR_932838.1:n.4066A>G
XR_933134.1:n.539-4834T>C
NM_001351800.1:c.3625A>G	NP_001338729.1:p.Ile1209Val
NR_147784.1:n.3629A>G
XM_011522479.2:c.3934A>G	XP_011520781.1:p.Ile1312Val
XM_011522481.3:c.3625A>G	XP_011520783.1:p.Ile1209Val
XM_017023212.1:c.3799A>G	XP_016878701.1:p.Ile1267Val
XM_024450261.1:c.4003A>G	XP_024306029.1:p.Ile1335Val
XR_932837.3:n.3948A>G
NM_001171.6:c.3967A>G MANE Select	NP_001162.5:p.Ile1323Val