Canonical Allele Identifier: CA394875910

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248837G>C (hg19) ; chr16:g.16154980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154980G>C , CM000678.2:g.16154980G>C	GRCh38
NC_000016.9:g.16248837G>C , CM000678.1:g.16248837G>C	GRCh37
NC_000016.8:g.16156338G>C	NCBI36
NG_007558.2:g.73492C>G
NG_007558.3:g.73638C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.797C>G
ENST00000622290.5:c.*106C>G	ENSP00000483331.2:n.*106C>G
ENST00000205557.12:c.3934C>G MANE Select	ENSP00000205557.7:p.Leu1312Val
ENST00000640696.1:c.748C>G	ENSP00000492197.1:p.Leu250Val
ENST00000205557.11:c.3934C>G	ENSP00000205557.7:p.Leu1312Val
ENST00000456970.6:c.3559C>G	ENSP00000405002.2:n.3559C>G
ENST00000576204.5:n.797C>G
ENST00000622290.4:c.*1143C>G	ENSP00000483331.1:n.*1143C>G
NM_001171.5:c.3934C>G	NP_001162.4:p.Leu1312Val
XM_011522479.1:c.3901C>G	XP_011520781.1:p.Leu1301Val
XM_011522480.1:c.3592C>G	XP_011520782.1:p.Leu1198Val
XM_011522481.1:c.3592C>G	XP_011520783.1:p.Leu1198Val
XR_932836.1:n.4232C>G
XR_932837.1:n.3970C>G
XR_932838.1:n.4033C>G
XR_933134.1:n.539-4801G>C
NM_001351800.1:c.3592C>G	NP_001338729.1:p.Leu1198Val
NR_147784.1:n.3596C>G
XM_011522479.2:c.3901C>G	XP_011520781.1:p.Leu1301Val
XM_011522481.3:c.3592C>G	XP_011520783.1:p.Leu1198Val
XM_017023212.1:c.3766C>G	XP_016878701.1:p.Leu1256Val
XM_024450261.1:c.3970C>G	XP_024306029.1:p.Leu1324Val
XR_932836.2:n.4178C>G
XR_932837.3:n.3915C>G
XR_932838.3:n.3978C>G
NM_001171.6:c.3934C>G MANE Select	NP_001162.5:p.Leu1312Val