Canonical Allele Identifier: CA394877901

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16251615C>G (hg19) ; chr16:g.16157758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16157758C>G , CM000678.2:g.16157758C>G	GRCh38
NC_000016.9:g.16251615C>G , CM000678.1:g.16251615C>G	GRCh37
NC_000016.8:g.16159116C>G	NCBI36
NG_007558.2:g.70714G>C
NG_007558.3:g.70860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3787G>C	ENSP00000483331.2:p.Gly1263Arg
ENST00000205557.12:c.3787G>C MANE Select	ENSP00000205557.7:p.Gly1263Arg
ENST00000640696.1:c.601G>C	ENSP00000492197.1:p.Gly201Arg
ENST00000205557.11:c.3787G>C	ENSP00000205557.7:p.Gly1263Arg
ENST00000456970.6:c.3412G>C	ENSP00000405002.2:n.3412G>C
ENST00000622290.4:c.*996G>C	ENSP00000483331.1:n.*996G>C
NM_001171.5:c.3787G>C	NP_001162.4:p.Gly1263Arg
XM_011522479.1:c.3754G>C	XP_011520781.1:p.Gly1252Arg
XM_011522480.1:c.3445G>C	XP_011520782.1:p.Gly1149Arg
XM_011522481.1:c.3445G>C	XP_011520783.1:p.Gly1149Arg
XR_932836.1:n.4022G>C
XR_932837.1:n.3823G>C
XR_932838.1:n.3823G>C
XR_933134.1:n.539-2023C>G
NM_001351800.1:c.3445G>C	NP_001338729.1:p.Gly1149Arg
NR_147784.1:n.3449G>C
XM_011522479.2:c.3754G>C	XP_011520781.1:p.Gly1252Arg
XM_011522481.3:c.3445G>C	XP_011520783.1:p.Gly1149Arg
XM_017023212.1:c.3619G>C	XP_016878701.1:p.Gly1207Arg
XM_024450261.1:c.3823G>C	XP_024306029.1:p.Gly1275Arg
XR_932836.2:n.3968G>C
XR_932837.3:n.3768G>C
XR_932838.3:n.3768G>C
NM_001171.6:c.3787G>C MANE Select	NP_001162.5:p.Gly1263Arg