Canonical Allele Identifier: CA400215353

Gene: COL1A1

Linked Data

• dbSNP Id: rs72648365
• gnomAD v2: 17-48271351-G-C
• gnomAD v4: 17-50193990-G-C
• MyVariant Identifiers: chr17:g.48271351G>C (hg19) ; chr17:g.50193990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193990G>C , CM000679.2:g.50193990G>C	GRCh38
NC_000017.10:g.48271351G>C , CM000679.1:g.48271351G>C	GRCh37
NC_000017.9:g.45626350G>C	NCBI36
NG_007400.1:g.12650C>G , LRG_1:g.12650C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1720C>G MANE Select	ENSP00000225964.6:p.Arg574Gly
ENST00000225964.9:c.1720C>G	ENSP00000225964.5:p.Arg574Gly
ENST00000463440.1:n.110C>G
ENST00000471344.1:n.752C>G
ENST00000476387.1:n.69C>G
NM_000088.3:c.1720C>G , LRG_1t1:c.1720C>G	NP_000079.2:p.Arg574Gly
XM_005257058.3:c.1720C>G	XP_005257115.2:p.Arg574Gly
XM_005257059.3:c.958-1297C>G	XP_005257116.2:n.958-1297C>G
XM_011524341.1:c.1522C>G	XP_011522643.1:p.Arg508Gly
XM_005257058.4:c.1720C>G	XP_005257115.2:p.Arg574Gly
XM_005257059.4:c.958-1297C>G	XP_005257116.2:n.958-1297C>G
NM_000088.4:c.1720C>G MANE Select	NP_000079.2:p.Arg574Gly