Canonical Allele Identifier: CA394883728

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244468G>C (hg19) ; chr16:g.16150611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150611G>C , CM000678.2:g.16150611G>C	GRCh38
NC_000016.9:g.16244468G>C , CM000678.1:g.16244468G>C	GRCh37
NC_000016.8:g.16151969G>C	NCBI36
NG_007558.2:g.77861C>G
NG_007558.3:g.78007C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*542C>G	ENSP00000483331.2:n.*542C>G
ENST00000205557.12:c.4370C>G MANE Select	ENSP00000205557.7:p.Ala1457Gly
ENST00000640696.1:c.1184C>G	ENSP00000492197.1:p.Ala395Gly
ENST00000205557.11:c.4370C>G	ENSP00000205557.7:p.Ala1457Gly
ENST00000456970.6:c.3995C>G	ENSP00000405002.2:n.3995C>G
ENST00000576204.5:n.1233C>G
ENST00000622290.4:c.*1579C>G	ENSP00000483331.1:n.*1579C>G
NM_001171.5:c.4370C>G	NP_001162.4:p.Ala1457Gly
XM_011522479.1:c.4337C>G	XP_011520781.1:p.Ala1446Gly
XM_011522480.1:c.4028C>G	XP_011520782.1:p.Ala1343Gly
XM_011522481.1:c.4028C>G	XP_011520783.1:p.Ala1343Gly
XR_933134.1:n.538+6321G>C
NM_001351800.1:c.4028C>G	NP_001338729.1:p.Ala1343Gly
NR_147784.1:n.4032C>G
XM_011522479.2:c.4337C>G	XP_011520781.1:p.Ala1446Gly
XM_011522481.3:c.4028C>G	XP_011520783.1:p.Ala1343Gly
XM_017023212.1:c.4202C>G	XP_016878701.1:p.Ala1401Gly
XM_024450261.1:c.4406C>G	XP_024306029.1:p.Ala1469Gly
NM_001171.6:c.4370C>G MANE Select	NP_001162.5:p.Ala1457Gly