Canonical Allele Identifier: CA291544556

Gene: COL1A1

Linked Data

• dbSNP Id: rs72651614
• MyVariant Identifiers: chr17:g.48270384G>C (hg19) ; chr17:g.50193023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193023G>C , CM000679.2:g.50193023G>C	GRCh38
NC_000017.10:g.48270384G>C , CM000679.1:g.48270384G>C	GRCh37
NC_000017.9:g.45625383G>C	NCBI36
NG_007400.1:g.13617C>G , LRG_1:g.13617C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1792C>G MANE Select	ENSP00000225964.6:p.Arg598Gly
ENST00000225964.9:c.1792C>G	ENSP00000225964.5:p.Arg598Gly
ENST00000476387.1:n.141C>G
NM_000088.3:c.1792C>G , LRG_1t1:c.1792C>G	NP_000079.2:p.Arg598Gly
XM_005257058.3:c.1792C>G	XP_005257115.2:p.Arg598Gly
XM_005257059.3:c.958-330C>G	XP_005257116.2:n.958-330C>G
XM_011524341.1:c.1594C>G	XP_011522643.1:p.Arg532Gly
XM_005257058.4:c.1792C>G	XP_005257115.2:p.Arg598Gly
XM_005257059.4:c.958-330C>G	XP_005257116.2:n.958-330C>G
NM_000088.4:c.1792C>G MANE Select	NP_000079.2:p.Arg598Gly