Canonical Allele Identifier: CA500991457

Gene: COL1A1

Linked Data

• dbSNP Id: rs1598283712
• MyVariant Identifiers: chr17:g.48262980C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185619C>G , CM000679.2:g.50185619C>G	GRCh38
NC_000017.10:g.48262980C>G , CM000679.1:g.48262980C>G	GRCh37
NC_000017.9:g.45617979C>G	NCBI36
NG_007400.1:g.21021G>C , LRG_1:g.21021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4278G>C MANE Select	ENSP00000225964.6:p.Val1426=
ENST00000225964.9:c.4278G>C	ENSP00000225964.5:p.Val1426=
NM_000088.3:c.4278G>C , LRG_1t1:c.4278G>C	NP_000079.2:p.Val1426=
XM_005257058.3:c.4008G>C	XP_005257115.2:p.Val1336=
XM_005257059.3:c.3360G>C	XP_005257116.2:p.Val1120=
XM_011524341.1:c.4080G>C	XP_011522643.1:p.Val1360=
XM_005257058.4:c.4008G>C	XP_005257115.2:p.Val1336=
XM_005257059.4:c.3360G>C	XP_005257116.2:p.Val1120=
NM_000088.4:c.4278G>C MANE Select	NP_000079.2:p.Val1426=