Canonical Allele Identifier: CA291542742

Gene: COL1A1

Linked Data

• dbSNP Id: rs182302582
• gnomAD v4: 17-50185400-T-A
• MyVariant Identifiers: chr17:g.48262761T>A (hg19) ; chr17:g.50185400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185400T>A , CM000679.2:g.50185400T>A	GRCh38
NC_000017.10:g.48262761T>A , CM000679.1:g.48262761T>A	GRCh37
NC_000017.9:g.45617760T>A	NCBI36
NG_007400.1:g.21240A>T , LRG_1:g.21240A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*102A>T MANE Select	ENSP00000225964.6:n.*102A>T
ENST00000225964.9:c.*102A>T	ENSP00000225964.5:n.*102A>T
NM_000088.3:c.*102A>T , LRG_1t1:c.*102A>T	NP_000079.2:n.*102A>T
XM_005257058.3:c.*102A>T	XP_005257115.2:n.*102A>T
XM_005257059.3:c.*102A>T	XP_005257116.2:n.*102A>T
XM_011524341.1:c.*102A>T	XP_011522643.1:n.*102A>T
XM_005257058.4:c.*102A>T	XP_005257115.2:n.*102A>T
XM_005257059.4:c.*102A>T	XP_005257116.2:n.*102A>T
NM_000088.4:c.*102A>T MANE Select	NP_000079.2:n.*102A>T