Canonical Allele Identifier: CA394883614

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244079C>A (hg19) ; chr16:g.16150222C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150222C>A , CM000678.2:g.16150222C>A	GRCh38
NC_000016.9:g.16244079C>A , CM000678.1:g.16244079C>A	GRCh37
NC_000016.8:g.16151580C>A	NCBI36
NG_007558.2:g.78250G>T
NG_007558.3:g.78396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*595G>T	ENSP00000483331.2:n.*595G>T
ENST00000205557.12:c.4423G>T MANE Select	ENSP00000205557.7:p.Gly1475Trp
ENST00000640696.1:c.1237G>T	ENSP00000492197.1:p.Gly413Trp
ENST00000205557.11:c.4423G>T	ENSP00000205557.7:p.Gly1475Trp
ENST00000456970.6:c.4048G>T	ENSP00000405002.2:n.4048G>T
ENST00000576204.5:n.1286G>T
ENST00000622290.4:c.*1632G>T	ENSP00000483331.1:n.*1632G>T
NM_001171.5:c.4423G>T	NP_001162.4:p.Gly1475Trp
XM_011522479.1:c.4390G>T	XP_011520781.1:p.Gly1464Trp
XM_011522480.1:c.4081G>T	XP_011520782.1:p.Gly1361Trp
XM_011522481.1:c.4081G>T	XP_011520783.1:p.Gly1361Trp
XR_933134.1:n.538+5932C>A
NM_001351800.1:c.4081G>T	NP_001338729.1:p.Gly1361Trp
NR_147784.1:n.4085G>T
XM_011522479.2:c.4390G>T	XP_011520781.1:p.Gly1464Trp
XM_011522481.3:c.4081G>T	XP_011520783.1:p.Gly1361Trp
XM_017023212.1:c.4255G>T	XP_016878701.1:p.Gly1419Trp
XM_024450261.1:c.4459G>T	XP_024306029.1:p.Gly1487Trp
NM_001171.6:c.4423G>T MANE Select	NP_001162.5:p.Gly1475Trp