Canonical Allele Identifier: CA394883955

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244574T>C (hg19) ; chr16:g.16150717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150717T>C , CM000678.2:g.16150717T>C	GRCh38
NC_000016.9:g.16244574T>C , CM000678.1:g.16244574T>C	GRCh37
NC_000016.8:g.16152075T>C	NCBI36
NG_007558.2:g.77755A>G
NG_007558.3:g.77901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*436A>G	ENSP00000483331.2:n.*436A>G
ENST00000205557.12:c.4264A>G MANE Select	ENSP00000205557.7:p.Ile1422Val
ENST00000640696.1:c.1078A>G	ENSP00000492197.1:p.Ile360Val
ENST00000205557.11:c.4264A>G	ENSP00000205557.7:p.Ile1422Val
ENST00000456970.6:c.3889A>G	ENSP00000405002.2:n.3889A>G
ENST00000576204.5:n.1127A>G
ENST00000622290.4:c.*1473A>G	ENSP00000483331.1:n.*1473A>G
NM_001171.5:c.4264A>G	NP_001162.4:p.Ile1422Val
XM_011522479.1:c.4231A>G	XP_011520781.1:p.Ile1411Val
XM_011522480.1:c.3922A>G	XP_011520782.1:p.Ile1308Val
XM_011522481.1:c.3922A>G	XP_011520783.1:p.Ile1308Val
XR_933134.1:n.538+6427T>C
NM_001351800.1:c.3922A>G	NP_001338729.1:p.Ile1308Val
NR_147784.1:n.3926A>G
XM_011522479.2:c.4231A>G	XP_011520781.1:p.Ile1411Val
XM_011522481.3:c.3922A>G	XP_011520783.1:p.Ile1308Val
XM_017023212.1:c.4096A>G	XP_016878701.1:p.Ile1366Val
XM_024450261.1:c.4300A>G	XP_024306029.1:p.Ile1434Val
NM_001171.6:c.4264A>G MANE Select	NP_001162.5:p.Ile1422Val