Canonical Allele Identifier: CA500845511

Gene: COL1A1

Linked Data

• dbSNP Id: rs1462677639
• gnomAD v3: 17-50190342-G-A
• gnomAD v4: 17-50190342-G-A
• MyVariant Identifiers: chr17:g.48267703G>A (hg19) ; chr17:g.50190342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190342G>A , CM000679.2:g.50190342G>A	GRCh38
NC_000017.10:g.48267703G>A , CM000679.1:g.48267703G>A	GRCh37
NC_000017.9:g.45622702G>A	NCBI36
NG_007400.1:g.16298C>T , LRG_1:g.16298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2436C>T MANE Select	ENSP00000225964.6:p.Gly812=
ENST00000225964.9:c.2436C>T	ENSP00000225964.5:p.Gly812=
ENST00000494334.1:n.363C>T
NM_000088.3:c.2436C>T , LRG_1t1:c.2436C>T	NP_000079.2:p.Gly812=
XM_005257058.3:c.2436C>T	XP_005257115.2:p.Gly812=
XM_005257059.3:c.1518C>T	XP_005257116.2:p.Gly506=
XM_011524341.1:c.2238C>T	XP_011522643.1:p.Gly746=
XM_005257058.4:c.2436C>T	XP_005257115.2:p.Gly812=
XM_005257059.4:c.1518C>T	XP_005257116.2:p.Gly506=
NM_000088.4:c.2436C>T MANE Select	NP_000079.2:p.Gly812=