Canonical Allele Identifier: CA400190780

Gene: COL1A1

Linked Data

• dbSNP Id: rs1447771894
• gnomAD v2: 17-48262991-C-T
• gnomAD v4: 17-50185630-C-T
• MyVariant Identifiers: chr17:g.48262991C>T (hg19) ; chr17:g.50185630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185630C>T , CM000679.2:g.50185630C>T	GRCh38
NC_000017.10:g.48262991C>T , CM000679.1:g.48262991C>T	GRCh37
NC_000017.9:g.45617990C>T	NCBI36
NG_007400.1:g.21010G>A , LRG_1:g.21010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4267G>A MANE Select	ENSP00000225964.6:p.Gly1423Ser
ENST00000225964.9:c.4267G>A	ENSP00000225964.5:p.Gly1423Ser
NM_000088.3:c.4267G>A , LRG_1t1:c.4267G>A	NP_000079.2:p.Gly1423Ser
XM_005257058.3:c.3997G>A	XP_005257115.2:p.Gly1333Ser
XM_005257059.3:c.3349G>A	XP_005257116.2:p.Gly1117Ser
XM_011524341.1:c.4069G>A	XP_011522643.1:p.Gly1357Ser
XM_005257058.4:c.3997G>A	XP_005257115.2:p.Gly1333Ser
XM_005257059.4:c.3349G>A	XP_005257116.2:p.Gly1117Ser
NM_000088.4:c.4267G>A MANE Select	NP_000079.2:p.Gly1423Ser