Canonical Allele Identifier: CA400227541

Gene: COL1A1

Linked Data

• dbSNP Id: rs1424117367
• gnomAD v2: 17-48276682-C-T
• gnomAD v3: 17-50199321-C-T
• gnomAD v4: 17-50199321-C-T
• MyVariant Identifiers: chr17:g.48276682C>T (hg19) ; chr17:g.50199321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199321C>T , CM000679.2:g.50199321C>T	GRCh38
NC_000017.10:g.48276682C>T , CM000679.1:g.48276682C>T	GRCh37
NC_000017.9:g.45631681C>T	NCBI36
NG_007400.1:g.7319G>A , LRG_1:g.7319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.376G>A MANE Select	ENSP00000225964.6:p.Ala126Thr
ENST00000225964.9:c.376G>A	ENSP00000225964.5:p.Ala126Thr
ENST00000474644.1:n.597G>A
ENST00000507689.1:c.430G>A	ENSP00000460459.1:p.Ala144Thr
NM_000088.3:c.376G>A , LRG_1t1:c.376G>A	NP_000079.2:p.Ala126Thr
XM_005257058.3:c.376G>A	XP_005257115.2:p.Ala126Thr
XM_005257059.3:c.376G>A	XP_005257116.2:p.Ala126Thr
XM_011524341.1:c.376G>A	XP_011522643.1:p.Ala126Thr
XM_005257058.4:c.376G>A	XP_005257115.2:p.Ala126Thr
XM_005257059.4:c.376G>A	XP_005257116.2:p.Ala126Thr
NM_000088.4:c.376G>A MANE Select	NP_000079.2:p.Ala126Thr