Canonical Allele Identifier: CA394884587

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248570G>C (hg19) ; chr16:g.16154713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154713G>C , CM000678.2:g.16154713G>C	GRCh38
NC_000016.9:g.16248570G>C , CM000678.1:g.16248570G>C	GRCh37
NC_000016.8:g.16156071G>C	NCBI36
NG_007558.2:g.73759C>G
NG_007558.3:g.73905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*295C>G	ENSP00000483331.2:n.*295C>G
ENST00000205557.12:c.4123C>G MANE Select	ENSP00000205557.7:p.Leu1375Val
ENST00000640696.1:c.937C>G	ENSP00000492197.1:p.Leu313Val
ENST00000205557.11:c.4123C>G	ENSP00000205557.7:p.Leu1375Val
ENST00000456970.6:c.3748C>G	ENSP00000405002.2:n.3748C>G
ENST00000576204.5:n.986C>G
ENST00000622290.4:c.*1332C>G	ENSP00000483331.1:n.*1332C>G
NM_001171.5:c.4123C>G	NP_001162.4:p.Leu1375Val
XM_011522479.1:c.4090C>G	XP_011520781.1:p.Leu1364Val
XM_011522480.1:c.3781C>G	XP_011520782.1:p.Leu1261Val
XM_011522481.1:c.3781C>G	XP_011520783.1:p.Leu1261Val
XR_933134.1:n.539-5068G>C
NM_001351800.1:c.3781C>G	NP_001338729.1:p.Leu1261Val
NR_147784.1:n.3785C>G
XM_011522479.2:c.4090C>G	XP_011520781.1:p.Leu1364Val
XM_011522481.3:c.3781C>G	XP_011520783.1:p.Leu1261Val
XM_017023212.1:c.3955C>G	XP_016878701.1:p.Leu1319Val
XM_024450261.1:c.4159C>G	XP_024306029.1:p.Leu1387Val
NM_001171.6:c.4123C>G MANE Select	NP_001162.5:p.Leu1375Val