Canonical Allele Identifier: CA2638704119
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50185400-T-G
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*102A>C MANE Select ENSP00000225964.6:n.*102A>C
ENST00000225964.9:c.*102A>C ENSP00000225964.5:n.*102A>C
NM_000088.3:c.*102A>C , LRG_1t1:c.*102A>C NP_000079.2:n.*102A>C
XM_005257058.3:c.*102A>C XP_005257115.2:n.*102A>C
XM_005257059.3:c.*102A>C XP_005257116.2:n.*102A>C
XM_011524341.1:c.*102A>C XP_011522643.1:n.*102A>C
XM_005257058.4:c.*102A>C XP_005257115.2:n.*102A>C
XM_005257059.4:c.*102A>C XP_005257116.2:n.*102A>C
NM_000088.4:c.*102A>C MANE Select NP_000079.2:n.*102A>C
Search 100 bp 5'
Search 100 bp 3'