Canonical Allele Identifier: CA500991729

Gene: COL1A1

Linked Data

• dbSNP Id: rs1376990721
• gnomAD v2: 17-48263271-G-A
• gnomAD v4: 17-50185910-G-A
• MyVariant Identifiers: chr17:g.48263271G>A (hg19) ; chr17:g.50185910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185910G>A , CM000679.2:g.50185910G>A	GRCh38
NC_000017.10:g.48263271G>A , CM000679.1:g.48263271G>A	GRCh37
NC_000017.9:g.45618270G>A	NCBI36
NG_007400.1:g.20730C>T , LRG_1:g.20730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4116C>T MANE Select	ENSP00000225964.6:p.Asn1372=
ENST00000225964.9:c.4116C>T	ENSP00000225964.5:p.Asn1372=
ENST00000510710.3:n.1081C>T
NM_000088.3:c.4116C>T , LRG_1t1:c.4116C>T	NP_000079.2:p.Asn1372=
XM_005257058.3:c.3846C>T	XP_005257115.2:p.Asn1282=
XM_005257059.3:c.3198C>T	XP_005257116.2:p.Asn1066=
XM_011524341.1:c.3918C>T	XP_011522643.1:p.Asn1306=
XM_005257058.4:c.3846C>T	XP_005257115.2:p.Asn1282=
XM_005257059.4:c.3198C>T	XP_005257116.2:p.Asn1066=
NM_000088.4:c.4116C>T MANE Select	NP_000079.2:p.Asn1372=