Canonical Allele Identifier: CA394875893

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248836A>C (hg19) ; chr16:g.16154979A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154979A>C , CM000678.2:g.16154979A>C	GRCh38
NC_000016.9:g.16248836A>C , CM000678.1:g.16248836A>C	GRCh37
NC_000016.8:g.16156337A>C	NCBI36
NG_007558.2:g.73493T>G
NG_007558.3:g.73639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.798T>G
ENST00000622290.5:c.*107T>G	ENSP00000483331.2:n.*107T>G
ENST00000205557.12:c.3935T>G MANE Select	ENSP00000205557.7:p.Leu1312Arg
ENST00000640696.1:c.749T>G	ENSP00000492197.1:p.Leu250Arg
ENST00000205557.11:c.3935T>G	ENSP00000205557.7:p.Leu1312Arg
ENST00000456970.6:c.3560T>G	ENSP00000405002.2:n.3560T>G
ENST00000576204.5:n.798T>G
ENST00000622290.4:c.*1144T>G	ENSP00000483331.1:n.*1144T>G
NM_001171.5:c.3935T>G	NP_001162.4:p.Leu1312Arg
XM_011522479.1:c.3902T>G	XP_011520781.1:p.Leu1301Arg
XM_011522480.1:c.3593T>G	XP_011520782.1:p.Leu1198Arg
XM_011522481.1:c.3593T>G	XP_011520783.1:p.Leu1198Arg
XR_932836.1:n.4233T>G
XR_932837.1:n.3971T>G
XR_932838.1:n.4034T>G
XR_933134.1:n.539-4802A>C
NM_001351800.1:c.3593T>G	NP_001338729.1:p.Leu1198Arg
NR_147784.1:n.3597T>G
XM_011522479.2:c.3902T>G	XP_011520781.1:p.Leu1301Arg
XM_011522481.3:c.3593T>G	XP_011520783.1:p.Leu1198Arg
XM_017023212.1:c.3767T>G	XP_016878701.1:p.Leu1256Arg
XM_024450261.1:c.3971T>G	XP_024306029.1:p.Leu1324Arg
XR_932836.2:n.4179T>G
XR_932837.3:n.3916T>G
XR_932838.3:n.3979T>G
NM_001171.6:c.3935T>G MANE Select	NP_001162.5:p.Leu1312Arg